Ryr3 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

1001 records found for search term Ryr3

Refine Term:

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
15141971	CV693655	single nucleotide variant	NM_001036.6(RYR3):c.*839A>G	Epileptic encephalopathy [RCV001521929]\|not provided [RCV004715348]	benign	15	33866065	33866065	Human	2	name
15125448	CV776112	single nucleotide variant	NM_001036.6(RYR3):c.51+9C>T	Epileptic encephalopathy [RCV001399340]	likely benign	15	33311105	33311105	Human	2	name
126750018	CV1031913	single nucleotide variant	NM_001036.6(RYR3):c.972+6G>C	Epileptic encephalopathy [RCV001337959]	uncertain significance	15	33550322	33550322	Human	2	name
126918801	CV1048855	single nucleotide variant	NM_001036.6(RYR3):c.354+4A>G	Epileptic encephalopathy [RCV001361938]	uncertain significance	15	33530670	33530670	Human	2	name
127236262	CV1080956	single nucleotide variant	NM_001036.6(RYR3):c.280-5C>T	Epileptic encephalopathy [RCV001414637]	likely benign	15	33530587	33530587	Human	2	name
127251868	CV1080960	single nucleotide variant	NM_001036.6(RYR3):c.741-7C>A	Epileptic encephalopathy [RCV001400222]	likely benign	15	33548123	33548123	Human	2	name
127254549	CV1102782	single nucleotide variant	NM_001036.6(RYR3):c.279+8C>G	Epileptic encephalopathy [RCV001437273]	likely benign	15	33503746	33503746	Human	2	name
127299653	CV1124199	single nucleotide variant	NM_001036.6(RYR3):c.547-5T>C	Epileptic encephalopathy [RCV001460885]	likely benign	15	33540786	33540786	Human	2	name
127318887	CV1124201	single nucleotide variant	NM_001036.6(RYR3):c.741-4A>C	Epileptic encephalopathy [RCV001466391]	likely benign	15	33548126	33548126	Human	2	name
127319020	CV1157408	single nucleotide variant	NM_001036.6(RYR3):c.815+9A>G	Epileptic encephalopathy [RCV001521921]\|not provided [RCV004716740]	benign	15	33548213	33548213	Human	2	name
13485931	CV464815	single nucleotide variant	NM_001036.6(RYR3):c.280-7C>G	Epileptic encephalopathy [RCV000553450]\|not provided [RCV004715271]	benign	15	33530585	33530585	Human	2	name
13805530	CV566904	single nucleotide variant	NM_001036.6(RYR3):c.815+6G>A	Epileptic encephalopathy [RCV000700125]	uncertain significance	15	33548210	33548210	Human	2	name
15147082	CV695635	single nucleotide variant	NM_001036.6(RYR3):c.434-5T>C	Epileptic encephalopathy [RCV000878676]\|not provided [RCV004715353]	benign	15	33539345	33539345	Human	2	name
15142937	CV776326	single nucleotide variant	NM_001036.6(RYR3):c.973-1G>C	Epileptic encephalopathy [RCV001430593]	likely benign	15	33562836	33562836	Human	2	name
38496928	CV960819	single nucleotide variant	NM_001036.6(RYR3):c.354+5G>A	Epileptic encephalopathy [RCV001242869]	uncertain significance	15	33530671	33530671	Human	2	name
126767711	CV1011424	single nucleotide variant	NM_001036.6(RYR3):c.7899+6G>A	Epileptic encephalopathy [RCV001320959]	uncertain significance	15	33742450	33742450	Human	2	name
126728409	CV1031935	single nucleotide variant	NM_001036.6(RYR3):c.6913-7C>A	Epileptic encephalopathy [RCV001348915]	likely benign\|uncertain significance	15	33726379	33726379	Human	2	name
126915609	CV1048879	single nucleotide variant	NM_001036.6(RYR3):c.7990-3T>C	Epileptic encephalopathy [RCV001371016]	uncertain significance	15	33748111	33748111	Human	2	name
127275791	CV1080970	single nucleotide variant	NM_001036.6(RYR3):c.4308+9G>A	Epileptic encephalopathy [RCV001406894]	likely benign	15	33652892	33652892	Human	2	name
127234174	CV1080973	single nucleotide variant	NM_001036.6(RYR3):c.5419-4G>A	Epileptic encephalopathy [RCV001414156]	likely benign	15	33663533	33663533	Human	2	name
127247035	CV1080980	single nucleotide variant	NM_001036.6(RYR3):c.7204-4C>T	Epileptic encephalopathy [RCV001416840]	likely benign	15	33731470	33731470	Human	2	name
127239929	CV1080986	single nucleotide variant	NM_001036.6(RYR3):c.8584-9G>T	Epileptic encephalopathy [RCV001415462]	likely benign	15	33757466	33757466	Human	2	name
127271462	CV1102785	single nucleotide variant	NM_001036.6(RYR3):c.1269-8G>C	Epileptic encephalopathy [RCV001441847]	likely benign	15	33579968	33579968	Human	2	name
127271682	CV1102790	single nucleotide variant	NM_001036.6(RYR3):c.3176-9T>C	Epileptic encephalopathy [RCV001441916]	likely benign	15	33635605	33635605	Human	2	name
127279971	CV1102791	single nucleotide variant	NM_001036.6(RYR3):c.3176-7A>G	Epileptic encephalopathy [RCV001446130]	likely benign	15	33635607	33635607	Human	2	name
127240762	CV1102800	single nucleotide variant	NM_001036.6(RYR3):c.5723-9G>C	Epileptic encephalopathy [RCV001434287]	likely benign	15	33670410	33670410	Human	2	name
127273210	CV1102807	single nucleotide variant	NM_001036.6(RYR3):c.8705+9A>G	Epileptic encephalopathy [RCV001442454]	likely benign	15	33757605	33757605	Human	2	name
127309203	CV1124218	single nucleotide variant	NM_001036.6(RYR3):c.6135-5C>T	Epileptic encephalopathy [RCV001456244]	likely benign	15	33697877	33697877	Human	2	name
127293825	CV1124222	single nucleotide variant	NM_001036.6(RYR3):c.7900-4A>G	Epileptic encephalopathy [RCV001452096]	likely benign	15	33746064	33746064	Human	2	name
127326055	CV1145072	single nucleotide variant	NM_001036.6(RYR3):c.3381+7T>A	Epileptic encephalopathy [RCV001485941]	likely benign	15	33635826	33635826	Human	2	name
127303007	CV1145082	single nucleotide variant	NM_001036.6(RYR3):c.5419-6T>C	Epileptic encephalopathy [RCV001499249]	likely benign	15	33663531	33663531	Human	2	name
127312444	CV1145093	single nucleotide variant	NM_001036.6(RYR3):c.7989+9C>G	Epileptic encephalopathy [RCV001481682]	likely benign	15	33746166	33746166	Human	2	name
127334458	CV1145098	single nucleotide variant	NM_001036.6(RYR3):c.9919-6A>G	Epileptic encephalopathy [RCV001490827]	likely benign	15	33801863	33801863	Human	2	name
127312304	CV1157419	single nucleotide variant	NM_001036.6(RYR3):c.6619+7C>G	Epileptic encephalopathy [RCV001518908]	benign	15	33707061	33707061	Human	2	name
127319034	CV1157420	single nucleotide variant	NM_001036.6(RYR3):c.6620-3C>T	Epileptic encephalopathy [RCV001521925]\|not provided [RCV001647316]	benign	15	33722712	33722712	Human	2	name
151869232	CV1413557	single nucleotide variant	NM_001036.6(RYR3):c.3556+5A>C	Epileptic encephalopathy [RCV002018721]	uncertain significance	15	33636555	33636555	Human	2	name
152028139	CV1655090	single nucleotide variant	NM_001036.6(RYR3):c.279+11G>A	Epileptic encephalopathy [RCV002105133]\|not provided [RCV004715593]	benign	15	33503749	33503749	Human	2	name
155959271	CV2133618	single nucleotide variant	NM_001036.6(RYR3):c.4623-9T>C	Epileptic encephalopathy [RCV003015382]	benign	15	33662144	33662144	Human	2	name
401919172	CV2794784	single nucleotide variant	NM_001036.6(RYR3):c.280-12T>C	not specified [RCV003388459]	likely benign	15	33530580	33530580	Human		name
401934274	CV2817386	single nucleotide variant	NM_001036.6(RYR3):c.7899+8T>C	not provided [RCV003411137]	uncertain significance	15	33742452	33742452	Human		name
401943594	CV2840102	single nucleotide variant	NM_001036.6(RYR3):c.4396-5C>T	not provided [RCV003456889]	uncertain significance	15	33660192	33660192	Human		name
407476354	CV3494805	single nucleotide variant	NM_001036.6(RYR3):c.7821-5C>G	not specified [RCV004690706]	uncertain significance	15	33742361	33742361	Human		name
13502062	CV464004	single nucleotide variant	NM_001036.6(RYR3):c.3028-9G>A	Epileptic encephalopathy [RCV000541603]\|not provided [RCV004704064]	likely benign	15	33634577	33634577	Human	2	name
13475672	CV464566	single nucleotide variant	NM_001036.6(RYR3):c.1437+8G>A	Epileptic encephalopathy [RCV000526390]	benign	15	33580152	33580152	Human	2	name
13470322	CV464593	single nucleotide variant	NM_001036.6(RYR3):c.3557-7T>G	Epileptic encephalopathy [RCV000546065]	benign	15	33644304	33644304	Human	2	name
13494833	CV464619	single nucleotide variant	NM_001036.6(RYR3):c.7516-8C>T	Epileptic encephalopathy [RCV000536691]\|not provided [RCV004715276]	benign	15	33738442	33738442	Human	2	name
13470059	CV464631	single nucleotide variant	NM_001036.6(RYR3):c.8136+9C>G	Epileptic encephalopathy [RCV000545852]\|not provided [RCV001672831]	benign	15	33748269	33748269	Human	2	name
13490442	CV464632	single nucleotide variant	NM_001036.6(RYR3):c.8400-5C>T	Epileptic encephalopathy [RCV000555977]\|RYR3-related disorder [RCV003905367]	benign	15	33755060	33755060	Human	3	name , alternate_id
13494182	CV464656	single nucleotide variant	NM_001036.6(RYR3):c.9831-8G>C	Epileptic encephalopathy [RCV000558707]\|RYR3-related disorder [RCV003935439]	benign\|likely benign	15	33800762	33800762	Human	3	name , alternate_id
13494110	CV464829	single nucleotide variant	NM_001036.6(RYR3):c.2164+8C>T	Epileptic encephalopathy [RCV000536153]\|not provided [RCV004716532]	benign	15	33603372	33603372	Human	2	name
13493147	CV464831	single nucleotide variant	NM_001036.6(RYR3):c.2574+3A>C	Epileptic encephalopathy [RCV000535468]	benign	15	33624026	33624026	Human	2	name
13491373	CV464852	single nucleotide variant	NM_001036.6(RYR3):c.5620-5C>G	Epileptic encephalopathy [RCV000534177]\|RYR3-related disorder [RCV003915530]	benign	15	33669349	33669349	Human	3	name , alternate_id
13476765	CV464854	single nucleotide variant	NM_001036.6(RYR3):c.6134+9T>C	Epileptic encephalopathy [RCV000549301]\|not provided [RCV004716534]	benign	15	33696500	33696500	Human	2	name
13471859	CV464890	single nucleotide variant	NM_001036.6(RYR3):c.8755+9A>G	Epileptic encephalopathy [RCV000524625]	likely benign	15	33768716	33768716	Human	2	name
13468434	CV464893	single nucleotide variant	NM_001036.6(RYR3):c.8516-8C>T	Epileptic encephalopathy [RCV000544508]	likely benign	15	33756298	33756298	Human	2	name
13605802	CV528687	single nucleotide variant	NM_001036.6(RYR3):c.8137-3T>C	Epileptic encephalopathy [RCV000637212]\|not specified [RCV005418260]	likely benign\|uncertain significance	15	33748465	33748465	Human	2	name
13605895	CV528693	single nucleotide variant	NM_001036.6(RYR3):c.8516-5C>T	Epileptic encephalopathy [RCV000637277]\|not provided [RCV005411515]	likely benign\|uncertain significance	15	33756301	33756301	Human	2	name
13605801	CV528702	single nucleotide variant	NM_001036.6(RYR3):c.9268+8T>C	Epileptic encephalopathy [RCV000637188]	likely benign	15	33780349	33780349	Human	2	name
13605774	CV528705	single nucleotide variant	NM_001036.6(RYR3):c.9589+5C>T	Epileptic encephalopathy [RCV000637184]	likely benign	15	33785987	33785987	Human	2	name
13605825	CV528716	single nucleotide variant	NM_001036.6(RYR3):c.9590-4G>A	Epileptic encephalopathy [RCV000637237]	likely benign	15	33788214	33788214	Human	2	name
13605853	CV529019	single nucleotide variant	NM_001036.6(RYR3):c.5419-8C>G	Epileptic encephalopathy [RCV000637264]	benign	15	33663529	33663529	Human	2	name
13605771	CV529092	single nucleotide variant	NM_001036.6(RYR3):c.1922+9A>T	Epileptic encephalopathy [RCV000637181]	likely benign	15	33601561	33601561	Human	2	name
13605794	CV529195	single nucleotide variant	NM_001036.6(RYR3):c.9589+6G>A	Epileptic encephalopathy [RCV000637195]	likely benign	15	33785988	33785988	Human	2	name
13815843	CV569256	single nucleotide variant	NM_001036.6(RYR3):c.2574+5G>T	Epileptic encephalopathy [RCV000705966]	uncertain significance	15	33624028	33624028	Human	2	name
13808282	CV569257	single nucleotide variant	NM_001036.6(RYR3):c.2679+3A>G	Epileptic encephalopathy [RCV000701561]	uncertain significance	15	33628578	33628578	Human	2	name
14711886	CV652403	single nucleotide variant	NM_001036.6(RYR3):c.9830+5G>A	Epileptic encephalopathy [RCV000819176]\|RYR3-related disorder [RCV003908107]	likely benign\|uncertain significance	15	33788463	33788463	Human	3	name , alternate_id
14706028	CV652549	single nucleotide variant	NM_001036.6(RYR3):c.4309-3C>G	Epileptic encephalopathy [RCV000802840]	uncertain significance	15	33659717	33659717	Human	2	name
15135396	CV744740	single nucleotide variant	NM_001036.6(RYR3):c.4308+7G>A	Epileptic encephalopathy [RCV000898450]	likely benign	15	33652890	33652890	Human	2	name
15182766	CV744864	single nucleotide variant	NM_001036.6(RYR3):c.6484-8T>A	Epileptic encephalopathy [RCV000907904]	benign	15	33706911	33706911	Human	2	name
15126898	CV745073	single nucleotide variant	NM_001036.6(RYR3):c.3942-5C>G	Epileptic encephalopathy [RCV000897011]	likely benign	15	33647419	33647419	Human	2	name
15118753	CV745081	single nucleotide variant	NM_001036.6(RYR3):c.4308+8C>T	Epileptic encephalopathy [RCV000895599]	benign	15	33652891	33652891	Human	2	name
15145547	CV760315	single nucleotide variant	NM_001036.6(RYR3):c.1437+7C>T	not provided [RCV000922561]	likely benign	15	33580151	33580151	Human		name
15164559	CV760318	single nucleotide variant	NM_001036.6(RYR3):c.3176-5A>T	not provided [RCV000926411]	likely benign	15	33635609	33635609	Human		name
15167441	CV760321	single nucleotide variant	NM_001036.6(RYR3):c.6135-4C>G	Epileptic encephalopathy [RCV001462643]	likely benign	15	33697878	33697878	Human	2	name
15168499	CV760329	single nucleotide variant	NM_001036.6(RYR3):c.6483+7G>A	Epileptic encephalopathy [RCV001412209]	likely benign	15	33701087	33701087	Human	2	name
15105015	CV775989	single nucleotide variant	NM_001036.6(RYR3):c.7820+7C>A	RYR3-related disorder [RCV003978104]\|not provided [RCV000937503]	likely benign	15	33740002	33740002	Human	1	name , alternate_id
15126240	CV776044	deletion	NM_001036.6(RYR3):c.8200-7del	Epileptic encephalopathy [RCV001432827]	likely benign	15	33749970	33749970	Human	2	name
15121127	CV776116	single nucleotide variant	NM_001036.6(RYR3):c.6250-4A>G	Epileptic encephalopathy [RCV000940462]	likely benign	15	33699700	33699700	Human	2	name
15115531	CV776120	single nucleotide variant	NM_001036.6(RYR3):c.6800+9A>T	Epileptic encephalopathy [RCV001394064]	likely benign	15	33722904	33722904	Human	2	name
15120996	CV776121	single nucleotide variant	NM_001036.6(RYR3):c.8756-8T>A	not provided [RCV000940440]	likely benign	15	33769104	33769104	Human		name
15098353	CV776125	single nucleotide variant	NM_001036.6(RYR3):c.9056-7G>A	Epileptic encephalopathy [RCV001428298]	likely benign	15	33773527	33773527	Human	2	name
15150173	CV778110	single nucleotide variant	NM_001036.6(RYR3):c.1146+3G>T	Epileptic encephalopathy [RCV000945444]	benign	15	33563013	33563013	Human	2	name
15192463	CV778137	single nucleotide variant	NM_001036.6(RYR3):c.2574+7T>A	Epileptic encephalopathy [RCV000955078]	likely benign	15	33624030	33624030	Human	2	name
15180439	CV778141	single nucleotide variant	NM_001036.6(RYR3):c.3028-8T>A	Epileptic encephalopathy [RCV000951749]	likely benign	15	33634578	33634578	Human	2	name
15153041	CV778151	single nucleotide variant	NM_001036.6(RYR3):c.4143-7C>T	Epileptic encephalopathy [RCV000946002]	likely benign	15	33652711	33652711	Human	2	name
15179842	CV778235	single nucleotide variant	NM_001036.6(RYR3):c.9590-5C>T	Epileptic encephalopathy [RCV000951611]	likely benign	15	33788213	33788213	Human	2	name
15179943	CV778326	single nucleotide variant	NM_001036.6(RYR3):c.4396-9G>A	Epileptic encephalopathy [RCV000951636]	likely benign	15	33660188	33660188	Human	2	name
15137160	CV788147	single nucleotide variant	NM_001036.6(RYR3):c.5419-9T>A	Epileptic encephalopathy [RCV001406073]	likely benign	15	33663528	33663528	Human	2	name
26921694	CV851599	single nucleotide variant	NM_001036.6(RYR3):c.8816+5G>A	Epileptic encephalopathy [RCV001050518]	uncertain significance	15	33769177	33769177	Human	2	name
26884869	CV851601	single nucleotide variant	NM_001036.6(RYR3):c.9056-2A>G	Epileptic encephalopathy [RCV001052741]	uncertain significance	15	33773532	33773532	Human	2	name
26891869	CV852029	single nucleotide variant	NM_001036.6(RYR3):c.1146+3G>A	Epileptic encephalopathy [RCV001061012]	uncertain significance	15	33563013	33563013	Human	2	name
26921124	CV852031	single nucleotide variant	NM_001036.6(RYR3):c.1573+4A>G	Epileptic encephalopathy [RCV001049248]	uncertain significance	15	33581647	33581647	Human	2	name
26921541	CV852579	single nucleotide variant	NM_001036.6(RYR3):c.1438-3C>T	Epileptic encephalopathy [RCV001050172]	uncertain significance	15	33581505	33581505	Human	2	name
26905544	CV852580	single nucleotide variant	NM_001036.6(RYR3):c.1788+4G>A	Epileptic encephalopathy [RCV001072010]	uncertain significance	15	33586120	33586120	Human	2	name
26904513	CV852582	single nucleotide variant	NM_001036.6(RYR3):c.5861-3C>T	Epileptic encephalopathy [RCV001070791]	uncertain significance	15	33696215	33696215	Human	2	name
26886717	CV852758	single nucleotide variant	NM_001036.6(RYR3):c.2679+1G>T	Epileptic encephalopathy [RCV001055330]	uncertain significance	15	33628576	33628576	Human	2	name
38482160	CV960102	single nucleotide variant	NM_001036.6(RYR3):c.5723-6T>G	Epileptic encephalopathy [RCV001235429]	likely benign\|uncertain significance	15	33670413	33670413	Human	2	name
38480027	CV960103	single nucleotide variant	NM_001036.6(RYR3):c.9830+4C>T	Epileptic encephalopathy [RCV001234547]	uncertain significance	15	33788462	33788462	Human	2	name
126744834	CV996178	single nucleotide variant	NM_001036.6(RYR3):c.2867+3A>T	Epileptic encephalopathy [RCV001296386]	uncertain significance	15	33631296	33631296	Human	2	name
126749439	CV996183	single nucleotide variant	NM_001036.6(RYR3):c.3556+7C>G	Epileptic encephalopathy [RCV001306636]	likely benign\|uncertain significance	15	33636557	33636557	Human	2	name
126729456	CV1031951	single nucleotide variant	NM_001036.6(RYR3):c.11568+5T>C	Epileptic encephalopathy [RCV001349105]	uncertain significance	15	33835077	33835077	Human	2	name
126908048	CV1048889	single nucleotide variant	NM_001036.6(RYR3):c.13671+4T>C	Epileptic encephalopathy [RCV001367527]	uncertain significance	15	33853091	33853091	Human	2	name
126921540	CV1048892	single nucleotide variant	NM_001036.6(RYR3):c.14142+4A>G	Epileptic encephalopathy [RCV001363612]	uncertain significance	15	33857918	33857918	Human	2	name
127244951	CV1080977	single nucleotide variant	NM_001036.6(RYR3):c.6619+10A>C	Epileptic encephalopathy [RCV001393794]	likely benign	15	33707064	33707064	Human	2	name
127275263	CV1080987	single nucleotide variant	NM_001036.6(RYR3):c.9590-10G>T	Epileptic encephalopathy [RCV001406665]	likely benign	15	33788208	33788208	Human	2	name
127239324	CV1080995	single nucleotide variant	NM_001036.6(RYR3):c.13498-8A>G	Epileptic encephalopathy [RCV001397521]	likely benign	15	33848283	33848283	Human	2	name
127233211	CV1081000	single nucleotide variant	NM_001036.6(RYR3):c.14008-9C>T	Epileptic encephalopathy [RCV001396035]	likely benign	15	33857771	33857771	Human	2	name
127249569	CV1102813	single nucleotide variant	NM_001036.6(RYR3):c.10706+8C>T	Epileptic encephalopathy [RCV001425162]	likely benign	15	33818692	33818692	Human	2	name
127251918	CV1102827	single nucleotide variant	NM_001036.6(RYR3):c.14466-8C>T	Epileptic encephalopathy [RCV001425725]	likely benign	15	33864130	33864130	Human	2	name
127309106	CV1124220	single nucleotide variant	NM_001036.6(RYR3):c.6801-10G>A	Epileptic encephalopathy [RCV001463495]	likely benign	15	33724055	33724055	Human	2	name
127328128	CV1124239	duplication	NM_001036.6(RYR3):c.10257+6dup	Epileptic encephalopathy [RCV001469442]	likely benign	15	33811042	33811043	Human	2	name
127293540	CV1124251	single nucleotide variant	NM_001036.6(RYR3):c.14518-7A>G	Epileptic encephalopathy [RCV001452023]	likely benign	15	33865124	33865124	Human	2	name
127298863	CV1145084	single nucleotide variant	NM_001036.6(RYR3):c.5722+10C>T	Epileptic encephalopathy [RCV001498171]	likely benign	15	33669466	33669466	Human	2	name
127330851	CV1145109	single nucleotide variant	NM_001036.6(RYR3):c.13671+9T>C	Epileptic encephalopathy [RCV001488405]	likely benign	15	33853096	33853096	Human	2	name
127319028	CV1157416	single nucleotide variant	NM_001036.6(RYR3):c.2575-10T>C	Epileptic encephalopathy [RCV001521923]\|not provided [RCV004715468]	benign	15	33628461	33628461	Human	2	name
127312621	CV1157417	duplication	NM_001036.6(RYR3):c.2867+18dup	Epileptic encephalopathy [RCV001519007]	benign	15	33631301	33631302	Human	2	name
127319041	CV1157426	single nucleotide variant	NM_001036.6(RYR3):c.11072+8C>T	Epileptic encephalopathy [RCV001521928]\|not provided [RCV004715469]	benign	15	33823080	33823080	Human	2	name
8584352	CV118925	single nucleotide variant	NM_001036.4(RYR3):c.741-426T>G	Lung cancer [RCV000099445]	uncertain significance	15	33547704	33547704	Human		name
8584358	CV118931	single nucleotide variant	NM_001036.4(RYR3):c.8755+90C>A	Lung cancer [RCV000099451]	uncertain significance	15	33768797	33768797	Human		name
150436231	CV1249661	deletion	NM_001036.6(RYR3):c.10816-9del	Epileptic encephalopathy [RCV002073122]\|not provided [RCV001665575]	benign	15	33821254	33821254	Human	2	name
152103674	CV1544575	single nucleotide variant	NM_001036.6(RYR3):c.6380-15C>G	Epileptic encephalopathy [RCV002115672]\|not provided [RCV004715597]	benign	15	33700962	33700962	Human	2	name
152031842	CV1546152	single nucleotide variant	NM_001036.6(RYR3):c.1922+16C>T	Epileptic encephalopathy [RCV002124643]\|not provided [RCV004716876]	benign	15	33601568	33601568	Human	2	name
152059988	CV1650380	single nucleotide variant	NM_001036.6(RYR3):c.7516-10C>T	Epileptic encephalopathy [RCV002128228]	likely benign	15	33738440	33738440	Human	2	name
152079313	CV1663377	single nucleotide variant	NM_001036.6(RYR3):c.4309-11T>C	Epileptic encephalopathy [RCV002149093]\|not provided [RCV004715622]	benign	15	33659709	33659709	Human	2	name
155954872	CV2014230	single nucleotide variant	NM_001036.6(RYR3):c.1574-12C>T	Epileptic encephalopathy [RCV002686212]	benign	15	33584383	33584383	Human	2	name
156135753	CV2032711	deletion	NM_001036.6(RYR3):c.2867+18del	Epileptic encephalopathy [RCV002740723]	benign	15	33631302	33631302	Human	2	name
405239993	CV3165991	single nucleotide variant	NM_001036.6(RYR3):c.8756-19A>G	Epileptic encephalopathy [RCV003867003]	benign	15	33769093	33769093	Human	2	name
13462820	CV439095	single nucleotide variant	NM_001036.6(RYR3):c.4622+14C>T	Epileptic encephalopathy [RCV002060211]\|not provided [RCV000514882]	benign	15	33660437	33660437	Human	2	name
13462452	CV439128	single nucleotide variant	NM_001036.6(RYR3):c.8705+17A>C	not provided [RCV000514190]	likely benign	15	33757613	33757613	Human		name
13495293	CV464089	single nucleotide variant	NM_001036.6(RYR3):c.10503-6G>A	Epileptic encephalopathy [RCV000559521]	likely benign	15	33816856	33816856	Human	2	name
13473153	CV464106	single nucleotide variant	NM_001036.6(RYR3):c.10816-9T>C	Epileptic encephalopathy [RCV000525248]\|not provided [RCV004715265]	benign	15	33821261	33821261	Human	2	name
13490634	CV464129	single nucleotide variant	NM_001036.6(RYR3):c.12978+3A>G	Epileptic encephalopathy [RCV000556116]\|not specified [RCV003403276]	uncertain significance	15	33838961	33838961	Human	2	name
13488782	CV464580	single nucleotide variant	NM_001036.6(RYR3):c.1788+10G>C	Epileptic encephalopathy [RCV000532569]\|RYR3-related disorder [RCV003905364]\|not provided [RCV004704063]	benign\|likely benign	15	33586126	33586126	Human	3	name , alternate_id
13499171	CV464663	single nucleotide variant	NM_001036.6(RYR3):c.10816-9T>G	Epileptic encephalopathy [RCV001475509]	likely benign	15	33821261	33821261	Human	2	name
13495779	CV464693	single nucleotide variant	NM_001036.6(RYR3):c.13861-4C>G	Epileptic encephalopathy [RCV000559875]	likely benign	15	33854762	33854762	Human	2	name
13472902	CV464843	single nucleotide variant	NM_001036.6(RYR3):c.4396-10C>T	Epileptic encephalopathy [RCV000547556]\|RYR3-related disorder [RCV003983110]\|not provided [RCV004715272]	benign	15	33660187	33660187	Human	3	name , alternate_id
13503824	CV464917	single nucleotide variant	NM_001036.6(RYR3):c.11464-8C>A	Epileptic encephalopathy [RCV000547163]\|RYR3-related disorder [RCV003915526]\|not provided [RCV003311836]	benign\|likely benign	15	33834960	33834960	Human	3	name , alternate_id
13466435	CV464942	single nucleotide variant	NM_001036.6(RYR3):c.13497+6C>T	Epileptic encephalopathy [RCV000543432]	benign	15	33845068	33845068	Human	2	name
13605793	CV528624	single nucleotide variant	NM_001036.6(RYR3):c.3381+10T>C	Epileptic encephalopathy [RCV000637196]	likely benign	15	33635829	33635829	Human	2	name
13605827	CV528675	single nucleotide variant	NM_001036.6(RYR3):c.10503-7C>T	Epileptic encephalopathy [RCV000637239]	likely benign	15	33816855	33816855	Human	2	name
13605810	CV528711	single nucleotide variant	NM_001036.6(RYR3):c.14466-7G>C	Epileptic encephalopathy [RCV000637220]	likely benign	15	33864131	33864131	Human	2	name
13605845	CV529005	single nucleotide variant	NM_001036.6(RYR3):c.2784-10T>G	Epileptic encephalopathy [RCV000637256]	benign	15	33631200	33631200	Human	2	name
13605788	CV529074	single nucleotide variant	NM_001036.6(RYR3):c.11073-8A>G	Epileptic encephalopathy [RCV000637201]	benign	15	33825595	33825595	Human	2	name
13605805	CV529230	single nucleotide variant	NM_001036.6(RYR3):c.14517+7A>C	Epileptic encephalopathy [RCV001470608]	likely benign	15	33864196	33864196	Human	2	name
13815181	CV569293	single nucleotide variant	NM_001036.6(RYR3):c.10816-6C>G	Epileptic encephalopathy [RCV000691414]	likely benign\|uncertain significance	15	33821264	33821264	Human	2	name
14712399	CV652404	single nucleotide variant	NM_001036.6(RYR3):c.10758+6C>G	Epileptic encephalopathy [RCV000820535]\|not provided [RCV004693388]	uncertain significance	15	33819813	33819813	Human	2	name
14713051	CV652721	single nucleotide variant	NM_001036.6(RYR3):c.10258-3C>A	Epileptic encephalopathy [RCV000822673]	uncertain significance	15	33812860	33812860	Human	2	name
14708347	CV652723	single nucleotide variant	NM_001036.6(RYR3):c.11164+1G>A	Congenital myopathy 20 [RCV003166284]\|Epileptic encephalopathy [RCV000809355]\|Flexion contracture [RCV001007854]	pathogenic\|uncertain significance	15	33826270	33826270	Human	5	name
14708761	CV653022	single nucleotide variant	NM_001036.6(RYR3):c.10995+5C>T	Epileptic encephalopathy [RCV000810252]\|not provided [RCV004693339]	uncertain significance	15	33821607	33821607	Human	2	name
14705003	CV653027	single nucleotide variant	NM_001036.6(RYR3):c.13628+3G>A	Epileptic encephalopathy [RCV000799406]	uncertain significance	15	33848424	33848424	Human	2	name
15194484	CV730978	single nucleotide variant	NM_001036.6(RYR3):c.10759-8A>G	Epileptic encephalopathy [RCV000889236]	benign	15	33820748	33820748	Human	2	name
15180351	CV730979	single nucleotide variant	NM_001036.6(RYR3):c.12979-6G>T	not provided [RCV000885506]	likely benign	15	33840819	33840819	Human		name
15200808	CV730981	single nucleotide variant	NM_001036.6(RYR3):c.14466-7G>A	Epileptic encephalopathy [RCV000891013]\|not provided [RCV001532254]	likely benign	15	33864131	33864131	Human	2	name
15150614	CV744854	single nucleotide variant	NM_001036.6(RYR3):c.3176-10C>T	not provided [RCV000901192]	likely benign	15	33635604	33635604	Human		name
15122174	CV760149	single nucleotide variant	NM_001036.6(RYR3):c.1268+10C>T	Epileptic encephalopathy [RCV000918606]	likely benign	15	33566809	33566809	Human	2	name
15166702	CV760377	single nucleotide variant	NM_001036.6(RYR3):c.11147-8A>G	Epileptic encephalopathy [RCV001484268]	likely benign	15	33826244	33826244	Human	2	name
15108279	CV779789	single nucleotide variant	NM_001036.6(RYR3):c.3028-10C>T	Epileptic encephalopathy [RCV001409921]	likely benign	15	33634576	33634576	Human	2	name
15111709	CV787891	single nucleotide variant	NM_001036.6(RYR3):c.11147-7T>C	Epileptic encephalopathy [RCV001407445]	likely benign	15	33826245	33826245	Human	2	name
15108832	CV787892	deletion	NM_001036.6(RYR3):c.13672-8del	Epileptic encephalopathy [RCV001423901]	likely benign	15	33853545	33853545	Human	2	name
15135115	CV787991	single nucleotide variant	NM_001036.6(RYR3):c.10815+8C>T	Epileptic encephalopathy [RCV000981868]	likely benign	15	33820820	33820820	Human	2	name
26901702	CV852033	single nucleotide variant	NM_001036.6(RYR3):c.11569-3T>C	Epileptic encephalopathy [RCV001068829]	uncertain significance	15	33836903	33836903	Human	2	name
26905604	CV852586	single nucleotide variant	NM_001036.6(RYR3):c.10995+6G>A	Epileptic encephalopathy [RCV001072089]	uncertain significance	15	33821608	33821608	Human	2	name
38494353	CV941082	single nucleotide variant	NM_001036.6(RYR3):c.13860+1G>A	Epileptic encephalopathy [RCV001224911]	uncertain significance	15	33854450	33854450	Human	2	name
38491716	CV941083	single nucleotide variant	NM_001036.6(RYR3):c.14299+4T>C	Epileptic encephalopathy [RCV001223031]	uncertain significance	15	33859735	33859735	Human	2	name
38496514	CV960104	deletion	NM_001036.6(RYR3):c.10816-3del	Epileptic encephalopathy [RCV001226440]	uncertain significance	15	33821262	33821262	Human	2	name
38457330	CV960105	single nucleotide variant	NM_001036.6(RYR3):c.11165-1G>A	Epileptic encephalopathy [RCV001228637]	uncertain significance	15	33826671	33826671	Human	2	name
38476584	CV960106	single nucleotide variant	NM_001036.6(RYR3):c.14007+4T>C	Epileptic encephalopathy [RCV001233143]	uncertain significance	15	33854916	33854916	Human	2	name
126747359	CV1011433	single nucleotide variant	NM_001036.6(RYR3):c.10759-10T>C	Epileptic encephalopathy [RCV001326142]	likely benign\|uncertain significance	15	33820746	33820746	Human	2	name
8649155	CV118924	single nucleotide variant	NM_001036.4(RYR3):c.51+76750T>A	Lung cancer [RCV000099444]	uncertain significance	15	33387846	33387846	Human		name
8584353	CV118926	single nucleotide variant	NM_001036.4(RYR3):c.973-5937C>A	Lung cancer [RCV000099446]	uncertain significance	15	33556900	33556900	Human		name
8584354	CV118927	single nucleotide variant	NM_001036.4(RYR3):c.2165-146A>C	Lung cancer [RCV000099447]	uncertain significance	15	33613037	33613037	Human		name
150455722	CV1246955	single nucleotide variant	NM_001036.6(RYR3):c.14300-19T>A	Epileptic encephalopathy [RCV002073119]\|not provided [RCV001668723]	benign	15	33860576	33860576	Human	2	name
8654349	CV130924	single nucleotide variant	NM_001036.4(RYR3):c.973-2848G>C	Lung cancer [RCV000111411]	uncertain significance	15	33559989	33559989	Human		name
152155854	CV1549874	single nucleotide variant	NM_001036.6(RYR3):c.13498-13C>T	Epileptic encephalopathy [RCV002158829]\|not provided [RCV004715625]	benign	15	33848278	33848278	Human	2	name
152046593	CV1561472	single nucleotide variant	NM_001036.6(RYR3):c.14518-19G>A	Epileptic encephalopathy [RCV002108412]	likely benign	15	33865112	33865112	Human	2	name
152123001	CV1613644	single nucleotide variant	NM_001036.6(RYR3):c.13210-13C>G	Epileptic encephalopathy [RCV002081817]\|not provided [RCV004715614]	benign	15	33843475	33843475	Human	2	name
152068740	CV1613718	single nucleotide variant	NM_001036.6(RYR3):c.10995+19G>A	Epileptic encephalopathy [RCV002074806]\|not provided [RCV004715615]	benign	15	33821621	33821621	Human	2	name
152157622	CV1630592	single nucleotide variant	NM_001036.6(RYR3):c.10600-20A>G	Epileptic encephalopathy [RCV002122644]\|not provided [RCV004715595]	benign	15	33818558	33818558	Human	2	name
152105135	CV1634003	single nucleotide variant	NM_001036.6(RYR3):c.10995+18C>T	Epileptic encephalopathy [RCV002196049]\|not provided [RCV004715626]	benign	15	33821620	33821620	Human	2	name
155985934	CV2030429	single nucleotide variant	NM_001036.6(RYR3):c.14364+14A>G	Epileptic encephalopathy [RCV002755537]	benign	15	33860673	33860673	Human	2	name
597860970	CV3826079	single nucleotide variant	NM_001036.6(RYR3):c.13297-20G>A	Epileptic encephalopathy [RCV005174978]	benign	15	33844842	33844842	Human	2	name
15101508	CV730980	single nucleotide variant	NM_001036.6(RYR3):c.14364+10C>T	Epileptic encephalopathy [RCV000892296]	likely benign	15	33860669	33860669	Human	2	name
15133902	CV775991	single nucleotide variant	NM_001036.6(RYR3):c.10389+10A>G	Epileptic encephalopathy [RCV001488072]	likely benign	15	33813004	33813004	Human	2	name
15152413	CV778328	single nucleotide variant	NM_001036.6(RYR3):c.10197+10C>T	Epileptic encephalopathy [RCV000945877]	benign	15	33810659	33810659	Human	2	name
8584355	CV118928	single nucleotide variant	NM_001036.4(RYR3):c.4308+1224G>T	Lung cancer [RCV000099448]	uncertain significance	15	33654107	33654107	Human		name
8584356	CV118929	single nucleotide variant	NM_001036.4(RYR3):c.4309-2434A>T	Lung cancer [RCV000099449]	uncertain significance	15	33657286	33657286	Human		name
8584357	CV118930	single nucleotide variant	NM_001036.4(RYR3):c.8705+4030A>T	Lung cancer [RCV000099450]	uncertain significance	15	33761626	33761626	Human		name
13487023	CV464552	deletion	NM_001036.6(RYR3):c.52-8_52-6del	Epileptic encephalopathy [RCV000554066]\|RYR3-related disorder [RCV003935436]	benign	15	33473409	33473411	Human	3	name , alternate_id
15153996	CV754364	single nucleotide variant	NM_001036.6(RYR3):c.15A>G (p.Gly5=)	not provided [RCV000924170]	likely benign	15	33311060	33311060	Human		name
127334352	CV1145058	single nucleotide variant	NM_001036.6(RYR3):c.57T>C (p.Asp19=)	Epileptic encephalopathy [RCV001490774]	likely benign	15	33473424	33473424	Human	2	name
127338071	CV1145059	single nucleotide variant	NM_001036.6(RYR3):c.78C>T (p.Ile26=)	Epileptic encephalopathy [RCV001493489]\|not specified [RCV004857803]	likely benign	15	33473445	33473445	Human	2	name
13501273	CV464807	single nucleotide variant	NM_001036.6(RYR3):c.78C>A (p.Ile26=)	Epileptic encephalopathy [RCV000540909]	benign	15	33473445	33473445	Human	2	name
13605736	CV529095	duplication	NM_001036.6(RYR3):c.13670_13671+3dup	Epileptic encephalopathy [RCV000637146]	uncertain significance	15	33853084	33853085	Human	2	name
15125442	CV770073	single nucleotide variant	NM_001036.6(RYR3):c.46A>C (p.Arg16=)	Epileptic encephalopathy [RCV001481423]	likely benign	15	33311091	33311091	Human	2	name
127233977	CV1080957	single nucleotide variant	NM_001036.6(RYR3):c.297C>T (p.Gly99=)	Epileptic encephalopathy [RCV001396333]	likely benign	15	33530609	33530609	Human	2	name
127243487	CV1102781	single nucleotide variant	NM_001036.6(RYR3):c.192C>T (p.Cys64=)	Epileptic encephalopathy [RCV001423962]	likely benign	15	33503651	33503651	Human	2	name
127291163	CV1124198	single nucleotide variant	NM_001036.6(RYR3):c.222A>G (p.Leu74=)	Epileptic encephalopathy [RCV001458636]	likely benign	15	33503681	33503681	Human	2	name
127297913	CV1124205	deletion	NM_001036.6(RYR3):c.1574-11_1574-9del	Epileptic encephalopathy [RCV001477750]\|RYR3-related disorder [RCV003921009]	likely benign	15	33584384	33584386	Human	3	name , alternate_id
405270674	CV3219671	single nucleotide variant	NM_001036.6(RYR3):c.273C>T (p.Gly91=)	RYR3-related disorder [RCV003971431]	likely benign	15	33503732	33503732	Human		name , trait , alternate_id
405701818	CV3310125	single nucleotide variant	NM_001036.6(RYR3):c.23G>A (p.Gly8Asp)	not specified [RCV004447203]	uncertain significance	15	33311068	33311068	Human		name
13501744	CV464554	single nucleotide variant	NM_001036.6(RYR3):c.147C>T (p.Phe49=)	Epileptic encephalopathy [RCV000541249]	likely benign	15	33473514	33473514	Human	2	name
13605723	CV528998	single nucleotide variant	NM_001036.6(RYR3):c.13G>A (p.Gly5Arg)	Epileptic encephalopathy [RCV000637133]	uncertain significance	15	33311058	33311058	Human	2	name
13605901	CV529001	single nucleotide variant	NM_001036.6(RYR3):c.270C>T (p.Gly90=)	Epileptic encephalopathy [RCV000637259]	likely benign	15	33503729	33503729	Human	2	name
13605842	CV529072	single nucleotide variant	NM_001036.6(RYR3):c.17A>G (p.Glu6Gly)	Epileptic encephalopathy [RCV001429156]\|not specified [RCV004025506]	likely benign\|uncertain significance	15	33311062	33311062	Human	2	name
15182209	CV703118	single nucleotide variant	NM_001036.6(RYR3):c.282A>G (p.Ala94=)	not provided [RCV000952162]	likely benign	15	33530594	33530594	Human		name
15102027	CV703119	single nucleotide variant	NM_001036.6(RYR3):c.288A>G (p.Gln96=)	Epileptic encephalopathy [RCV000959211]\|not provided [RCV003396560]	likely benign	15	33530600	33530600	Human	2	name
15169774	CV739542	single nucleotide variant	NM_001036.6(RYR3):c.120C>T (p.Ala40=)	Epileptic encephalopathy [RCV000905129]	likely benign	15	33473487	33473487	Human	2	name
15142699	CV770074	single nucleotide variant	NM_001036.6(RYR3):c.234C>A (p.Ala78=)	not provided [RCV000944120]	likely benign	15	33503693	33503693	Human		name
26894019	CV842135	single nucleotide variant	NM_001036.6(RYR3):c.11G>C (p.Gly4Ala)	Congenital myopathy 20 [RCV003492216]\|Epileptic encephalopathy [RCV001063110]\|not specified [RCV004030481]	likely benign\|uncertain significance	15	33311056	33311056	Human	3	name
126729755	CV996168	single nucleotide variant	NM_001036.6(RYR3):c.14G>A (p.Gly5Glu)	Epileptic encephalopathy [RCV001303620]	uncertain significance	15	33311059	33311059	Human	2	name
126916461	CV1048852	single nucleotide variant	NM_001036.6(RYR3):c.79G>A (p.Ala27Thr)	Epileptic encephalopathy [RCV001360593]	uncertain significance	15	33473446	33473446	Human	2	name
127243925	CV1080958	single nucleotide variant	NM_001036.6(RYR3):c.498A>C (p.Arg166=)	Epileptic encephalopathy [RCV001416269]	likely benign	15	33539414	33539414	Human	2	name
127270994	CV1080959	single nucleotide variant	NM_001036.6(RYR3):c.561A>C (p.Ser187=)	Epileptic encephalopathy [RCV001405224]	likely benign	15	33540805	33540805	Human	2	name
127234494	CV1080961	single nucleotide variant	NM_001036.6(RYR3):c.762G>A (p.Gly254=)	Epileptic encephalopathy [RCV001396439]	likely benign	15	33548151	33548151	Human	2	name
127230475	CV1080962	single nucleotide variant	NM_001036.6(RYR3):c.993C>T (p.Asp331=)	Epileptic encephalopathy [RCV001412471]	likely benign	15	33562857	33562857	Human	2	name
127282036	CV1102783	single nucleotide variant	NM_001036.6(RYR3):c.519C>T (p.Leu173=)	Epileptic encephalopathy [RCV001447581]	likely benign	15	33539435	33539435	Human	2	name
127270342	CV1102784	single nucleotide variant	NM_001036.6(RYR3):c.825C>T (p.Gly275=)	Epileptic encephalopathy [RCV001441423]	likely benign	15	33550169	33550169	Human	2	name
127244974	CV1102829	duplication	NM_001036.6(RYR3):c.14518-7_14518-4dup	Epileptic encephalopathy [RCV001435137]	likely benign	15	33865121	33865122	Human	2	name
127311026	CV1124200	single nucleotide variant	NM_001036.6(RYR3):c.663G>A (p.Gly221=)	Epileptic encephalopathy [RCV001464059]	likely benign	15	33543638	33543638	Human	2	name
127315718	CV1145060	single nucleotide variant	NM_001036.6(RYR3):c.339C>T (p.His113=)	Epileptic encephalopathy [RCV001482590]	likely benign	15	33530651	33530651	Human	2	name
127309200	CV1145061	single nucleotide variant	NM_001036.6(RYR3):c.831C>T (p.Asn277=)	Epileptic encephalopathy [RCV001500984]	likely benign	15	33550175	33550175	Human	2	name
127299103	CV1157407	single nucleotide variant	NM_001036.6(RYR3):c.621G>A (p.Thr207=)	Epileptic encephalopathy [RCV001513554]\|not provided [RCV003399277]	benign\|likely benign	15	33540865	33540865	Human	2	name
13497177	CV463964	single nucleotide variant	NM_001036.6(RYR3):c.363A>G (p.Thr121=)	Epileptic encephalopathy [RCV000560871]	likely benign	15	33533319	33533319	Human	2	name
13475248	CV463969	single nucleotide variant	NM_001036.6(RYR3):c.789T>G (p.Leu263=)	Epileptic encephalopathy [RCV001442591]	likely benign	15	33548178	33548178	Human	2	name
13466878	CV464559	single nucleotide variant	NM_001036.6(RYR3):c.855A>T (p.Arg285=)	Epileptic encephalopathy [RCV000543694]\|not provided [RCV004715278]	benign	15	33550199	33550199	Human	2	name
13484390	CV464813	single nucleotide variant	NM_001036.6(RYR3):c.348C>T (p.Ser116=)	Epileptic encephalopathy [RCV000552741]\|not provided [RCV003409785]	likely benign	15	33530660	33530660	Human	2	name
13806614	CV566898	single nucleotide variant	NM_001036.6(RYR3):c.648A>G (p.Gly216=)	Epileptic encephalopathy [RCV000686330]	likely benign\|uncertain significance	15	33543623	33543623	Human	2	name
14729354	CV643011	single nucleotide variant	NM_001036.6(RYR3):c.30C>A (p.Asp10Glu)	Epileptic encephalopathy [RCV000800449]\|not provided [RCV002067392]	uncertain significance	15	33311075	33311075	Human	2	name
15173006	CV770075	single nucleotide variant	NM_001036.6(RYR3):c.315C>T (p.Tyr105=)	Epileptic encephalopathy [RCV001461790]	likely benign	15	33530627	33530627	Human	2	name
15119501	CV784871	single nucleotide variant	NM_001036.6(RYR3):c.552C>G (p.Leu184=)	Epileptic encephalopathy [RCV001410513]	likely benign	15	33540796	33540796	Human	2	name
15111115	CV787890	deletion	NM_001036.6(RYR3):c.10816-9_10816-8del	Epileptic encephalopathy [RCV001430150]	likely benign	15	33821261	33821262	Human	2	name
38485696	CV948809	single nucleotide variant	NM_001036.6(RYR3):c.80C>A (p.Ala27Asp)	Epileptic encephalopathy [RCV001236865]	uncertain significance	15	33473447	33473447	Human	2	name
126763235	CV1011404	single nucleotide variant	NM_001036.6(RYR3):c.1128G>A (p.Leu376=)	Epileptic encephalopathy [RCV001319168]	likely benign\|uncertain significance	15	33562992	33562992	Human	2	name
126918610	CV1048853	single nucleotide variant	NM_001036.6(RYR3):c.161C>T (p.Ser54Leu)	Congenital myopathy 20 [RCV003761205]\|Epileptic encephalopathy [RCV001361822]	uncertain significance	15	33473528	33473528	Human	3	name
126917260	CV1048854	single nucleotide variant	NM_001036.6(RYR3):c.178C>G (p.Pro60Ala)	Epileptic encephalopathy [RCV001371975]	uncertain significance	15	33503637	33503637	Human	2	name
127230505	CV1080963	single nucleotide variant	NM_001036.6(RYR3):c.1215C>G (p.Ser405=)	Epileptic encephalopathy [RCV001394710]	likely benign	15	33566746	33566746	Human	2	name
127252025	CV1080964	single nucleotide variant	NM_001036.6(RYR3):c.1344C>T (p.Ala448=)	Epileptic encephalopathy [RCV001417956]	likely benign	15	33580051	33580051	Human	2	name
127259290	CV1080965	single nucleotide variant	NM_001036.6(RYR3):c.1743C>T (p.Ile581=)	Epileptic encephalopathy [RCV001401900]	likely benign	15	33586071	33586071	Human	2	name
127283976	CV1080966	single nucleotide variant	NM_001036.6(RYR3):c.1953G>A (p.Ala651=)	Epileptic encephalopathy [RCV001412139]	likely benign	15	33603153	33603153	Human	2	name
127278569	CV1080967	single nucleotide variant	NM_001036.6(RYR3):c.2043G>T (p.Arg681=)	Epileptic encephalopathy [RCV001408536]	likely benign	15	33603243	33603243	Human	2	name
127252955	CV1080968	single nucleotide variant	NM_001036.6(RYR3):c.2829T>C (p.Ala943=)	Epileptic encephalopathy [RCV001418185]	likely benign	15	33631255	33631255	Human	2	name
127278134	CV1102786	single nucleotide variant	NM_001036.6(RYR3):c.1341C>T (p.Ile447=)	Epileptic encephalopathy [RCV001444831]	likely benign	15	33580048	33580048	Human	2	name
127233298	CV1102787	single nucleotide variant	NM_001036.6(RYR3):c.1416A>G (p.Arg472=)	Epileptic encephalopathy [RCV001421715]	likely benign	15	33580123	33580123	Human	2	name
127282515	CV1102788	single nucleotide variant	NM_001036.6(RYR3):c.1605C>T (p.Cys535=)	Epileptic encephalopathy [RCV001447892]	likely benign	15	33584426	33584426	Human	2	name
127243737	CV1102789	single nucleotide variant	NM_001036.6(RYR3):c.1734G>A (p.Glu578=)	Epileptic encephalopathy [RCV001424007]	likely benign	15	33586062	33586062	Human	2	name
127304136	CV1124202	single nucleotide variant	NM_001036.6(RYR3):c.1041G>A (p.Lys347=)	Epileptic encephalopathy [RCV001462129]	likely benign	15	33562905	33562905	Human	2	name
127330020	CV1124203	single nucleotide variant	NM_001036.6(RYR3):c.1092G>A (p.Val364=)	Epileptic encephalopathy [RCV001470580]\|not provided [RCV004704593]	likely benign	15	33562956	33562956	Human	2	name
127309039	CV1124204	single nucleotide variant	NM_001036.6(RYR3):c.1290C>T (p.Ala430=)	Epileptic encephalopathy [RCV001456210]	likely benign	15	33579997	33579997	Human	2	name
127326000	CV1124206	single nucleotide variant	NM_001036.6(RYR3):c.1656A>G (p.Leu552=)	Epileptic encephalopathy [RCV001468647]	likely benign	15	33584477	33584477	Human	2	name
127313424	CV1124207	single nucleotide variant	NM_001036.6(RYR3):c.2286G>T (p.Val762=)	Epileptic encephalopathy [RCV001457455]	likely benign	15	33613304	33613304	Human	2	name
127302631	CV1124208	single nucleotide variant	NM_001036.6(RYR3):c.2757C>T (p.Asn919=)	Epileptic encephalopathy [RCV001454485]	likely benign	15	33630017	33630017	Human	2	name
127320916	CV1145062	single nucleotide variant	NM_001036.6(RYR3):c.1059C>T (p.Cys353=)	Epileptic encephalopathy [RCV001484383]	likely benign	15	33562923	33562923	Human	2	name
127317464	CV1145063	single nucleotide variant	NM_001036.6(RYR3):c.1128G>T (p.Leu376=)	Epileptic encephalopathy [RCV001503395]	likely benign	15	33562992	33562992	Human	2	name
127333673	CV1145064	single nucleotide variant	NM_001036.6(RYR3):c.1317C>T (p.Val439=)	Epileptic encephalopathy [RCV001490321]	likely benign	15	33580024	33580024	Human	2	name
127289133	CV1145065	single nucleotide variant	NM_001036.6(RYR3):c.1524G>A (p.Glu508=)	Epileptic encephalopathy [RCV001495532]	likely benign	15	33581594	33581594	Human	2	name
127316044	CV1145066	single nucleotide variant	NM_001036.6(RYR3):c.1914T>C (p.Asp638=)	Epileptic encephalopathy [RCV001502906]	likely benign	15	33601544	33601544	Human	2	name
127315243	CV1145067	single nucleotide variant	NM_001036.6(RYR3):c.2133C>A (p.Ser711=)	Epileptic encephalopathy [RCV001482478]	likely benign	15	33603333	33603333	Human	2	name
127315722	CV1145068	single nucleotide variant	NM_001036.6(RYR3):c.2409C>T (p.Pro803=)	Epileptic encephalopathy [RCV001482591]	likely benign	15	33623858	33623858	Human	2	name
127289418	CV1145069	single nucleotide variant	NM_001036.6(RYR3):c.2517T>C (p.Gly839=)	Epileptic encephalopathy [RCV001495623]	likely benign	15	33623966	33623966	Human	2	name
127336621	CV1145070	single nucleotide variant	NM_001036.6(RYR3):c.2787C>G (p.Thr929=)	Epileptic encephalopathy [RCV001492299]	likely benign	15	33631213	33631213	Human	2	name
127302138	CV1157409	single nucleotide variant	NM_001036.6(RYR3):c.1104A>G (p.Ala368=)	Epileptic encephalopathy [RCV001514950]\|not provided [RCV004715445]	benign	15	33562968	33562968	Human	2	name
127303366	CV1157410	single nucleotide variant	NM_001036.6(RYR3):c.1203G>A (p.Gln401=)	Epileptic encephalopathy [RCV001515455]\|not provided [RCV004715448]	benign	15	33566734	33566734	Human	2	name
127319024	CV1157411	single nucleotide variant	NM_001036.6(RYR3):c.1269C>T (p.Ser423=)	Epileptic encephalopathy [RCV001521922]\|not provided [RCV004715467]	benign	15	33579976	33579976	Human	2	name
127318901	CV1157413	single nucleotide variant	NM_001036.6(RYR3):c.1773C>T (p.His591=)	Epileptic encephalopathy [RCV001521870]	benign	15	33586101	33586101	Human	2	name
127320259	CV1157415	single nucleotide variant	NM_001036.6(RYR3):c.2403G>C (p.Leu801=)	Epileptic encephalopathy [RCV001522545]\|not provided [RCV004715472]	benign	15	33623852	33623852	Human	2	name
151782688	CV1369869	single nucleotide variant	NM_001036.6(RYR3):c.287A>G (p.Gln96Arg)	Epileptic encephalopathy [RCV001930589]	uncertain significance	15	33530599	33530599	Human	2	name
151823849	CV1412332	single nucleotide variant	NM_001036.6(RYR3):c.137G>A (p.Arg46His)	Epileptic encephalopathy [RCV001901148]\|not specified [RCV003994350]	uncertain significance	15	33473504	33473504	Human	2	name
152148653	CV1566339	single nucleotide variant	NM_001036.6(RYR3):c.2835G>A (p.Glu945=)	Epileptic encephalopathy [RCV002139187]	likely benign	15	33631261	33631261	Human	2	name
156156325	CV2266207	single nucleotide variant	NM_001036.6(RYR3):c.271G>A (p.Gly91Ser)	not specified [RCV004128780]	uncertain significance	15	33503730	33503730	Human		name
329368716	CV2428115	single nucleotide variant	NM_001036.6(RYR3):c.136C>T (p.Arg46Cys)	not specified [RCV004254487]	uncertain significance	15	33473503	33473503	Human		name
401934273	CV2817380	single nucleotide variant	NM_001036.6(RYR3):c.2790C>T (p.Leu930=)	not provided [RCV003411136]	likely benign	15	33631216	33631216	Human		name
401916036	CV2817381	single nucleotide variant	NM_001036.6(RYR3):c.2883C>T (p.Asn961=)	not provided [RCV003400843]	likely benign	15	33632964	33632964	Human		name
405268206	CV3186993	single nucleotide variant	NM_001036.6(RYR3):c.1812C>T (p.Leu604=)	not provided [RCV003887076]	likely benign	15	33601442	33601442	Human		name
405259971	CV3195297	single nucleotide variant	NM_001036.6(RYR3):c.1791T>A (p.Val597=)	RYR3-related disorder [RCV003894491]	likely benign	15	33601421	33601421	Human		name , trait , alternate_id
405270672	CV3212018	single nucleotide variant	NM_001036.6(RYR3):c.1095C>G (p.Thr365=)	RYR3-related disorder [RCV003949410]	likely benign	15	33562959	33562959	Human		name , trait , alternate_id
13492823	CV463984	single nucleotide variant	NM_001036.6(RYR3):c.1953G>C (p.Ala651=)	Epileptic encephalopathy [RCV001498855]	likely benign	15	33603153	33603153	Human	2	name
13466794	CV463987	single nucleotide variant	NM_001036.6(RYR3):c.2214G>A (p.Ser738=)	Epileptic encephalopathy [RCV000543655]\|not provided [RCV001310742]	benign\|likely benign	15	33613232	33613232	Human	2	name
13482443	CV463991	single nucleotide variant	NM_001036.6(RYR3):c.2502T>A (p.Ile834=)	Epileptic encephalopathy [RCV000551858]\|not provided [RCV004715270]	benign	15	33623951	33623951	Human	2	name
13497627	CV464817	single nucleotide variant	NM_001036.6(RYR3):c.1110C>T (p.Asp370=)	Epileptic encephalopathy [RCV000538729]\|not provided [RCV004716529]	benign	15	33562974	33562974	Human	2	name
13482622	CV464824	single nucleotide variant	NM_001036.6(RYR3):c.1491C>T (p.Ser497=)	Epileptic encephalopathy [RCV000529498]	likely benign	15	33581561	33581561	Human	2	name
13472959	CV464830	single nucleotide variant	NM_001036.6(RYR3):c.2532C>T (p.Leu844=)	Epileptic encephalopathy [RCV000525161]	likely benign	15	33623981	33623981	Human	2	name
13605744	CV528608	single nucleotide variant	NM_001036.6(RYR3):c.1146G>A (p.Lys382=)	Epileptic encephalopathy [RCV000637154]	benign\|uncertain significance	15	33563010	33563010	Human	2	name
13605829	CV529100	single nucleotide variant	NM_001036.6(RYR3):c.2559C>T (p.Pro853=)	Epileptic encephalopathy [RCV000637241]	likely benign	15	33624008	33624008	Human	2	name
13807678	CV566895	single nucleotide variant	NM_001036.6(RYR3):c.160T>G (p.Ser54Ala)	Epileptic encephalopathy [RCV000686918]\|not specified [RCV005268710]	uncertain significance	15	33473527	33473527	Human	2	name
13816440	CV569236	single nucleotide variant	NM_001036.6(RYR3):c.264A>C (p.Glu88Asp)	Epileptic encephalopathy [RCV000706366]	uncertain significance	15	33503723	33503723	Human	2	name
14723644	CV643012	single nucleotide variant	NM_001036.6(RYR3):c.274G>A (p.Glu92Lys)	Epileptic encephalopathy [RCV000814442]	likely benign\|uncertain significance	15	33503733	33503733	Human	2	name
15174388	CV703121	single nucleotide variant	NM_001036.6(RYR3):c.1587C>T (p.Arg529=)	Epileptic encephalopathy [RCV000950336]	likely benign	15	33584408	33584408	Human	2	name
15181780	CV703123	single nucleotide variant	NM_001036.6(RYR3):c.2301G>A (p.Glu767=)	Epileptic encephalopathy [RCV000952060]	benign	15	33613319	33613319	Human	2	name
15176873	CV703124	single nucleotide variant	NM_001036.6(RYR3):c.2595A>G (p.Leu865=)	Epileptic encephalopathy [RCV000950922]	likely benign	15	33628491	33628491	Human	2	name
15152798	CV703125	single nucleotide variant	NM_001036.6(RYR3):c.2598A>G (p.Glu866=)	Epileptic encephalopathy [RCV000945951]	likely benign	15	33628494	33628494	Human	2	name
15132337	CV714390	single nucleotide variant	NM_001036.6(RYR3):c.2910G>A (p.Leu970=)	Epileptic encephalopathy [RCV001475496]	likely benign	15	33632991	33632991	Human	2	name
15201782	CV726002	single nucleotide variant	NM_001036.6(RYR3):c.1911C>T (p.Asn637=)	not provided [RCV000891290]	likely benign	15	33601541	33601541	Human		name
15149982	CV726003	single nucleotide variant	NM_001036.6(RYR3):c.1950C>T (p.Val650=)	Epileptic encephalopathy [RCV001397522]	likely benign	15	33603150	33603150	Human	2	name
15114287	CV739543	single nucleotide variant	NM_001036.6(RYR3):c.1737C>T (p.Gly579=)	Epileptic encephalopathy [RCV002065611]	likely benign	15	33586065	33586065	Human	2	name
15166800	CV739544	single nucleotide variant	NM_001036.6(RYR3):c.1998C>T (p.Ile666=)	Epileptic encephalopathy [RCV000904520]	likely benign	15	33603198	33603198	Human	2	name
15132641	CV739545	single nucleotide variant	NM_001036.6(RYR3):c.2094A>G (p.Glu698=)	Epileptic encephalopathy [RCV001439038]	likely benign	15	33603294	33603294	Human	2	name
15117163	CV739546	single nucleotide variant	NM_001036.6(RYR3):c.2220C>T (p.Asp740=)	Epileptic encephalopathy [RCV000895329]	likely benign	15	33613238	33613238	Human	2	name
15166440	CV754365	single nucleotide variant	NM_001036.6(RYR3):c.1329A>G (p.Leu443=)	Epileptic encephalopathy [RCV001484260]	likely benign	15	33580036	33580036	Human	2	name
15166721	CV754366	single nucleotide variant	NM_001036.6(RYR3):c.2964A>G (p.Glu988=)	Epileptic encephalopathy [RCV001439997]	likely benign	15	33633045	33633045	Human	2	name
15133961	CV770076	single nucleotide variant	NM_001036.6(RYR3):c.2433A>G (p.Glu811=)	not provided [RCV000942661]	likely benign	15	33623882	33623882	Human		name
15101685	CV784872	single nucleotide variant	NM_001036.6(RYR3):c.1209G>A (p.Glu403=)	not provided [RCV000975640]	likely benign	15	33566740	33566740	Human		name
15118281	CV784873	single nucleotide variant	NM_001036.6(RYR3):c.2637T>C (p.Leu879=)	Epileptic encephalopathy [RCV000978923]	likely benign	15	33628533	33628533	Human	2	name
15103957	CV784874	single nucleotide variant	NM_001036.6(RYR3):c.2931T>A (p.Pro977=)	Epileptic encephalopathy [RCV001472917]	likely benign	15	33633012	33633012	Human	2	name
26904804	CV842136	single nucleotide variant	NM_001036.6(RYR3):c.191G>A (p.Cys64Tyr)	Epileptic encephalopathy [RCV001071177]	uncertain significance	15	33503650	33503650	Human	2	name
38479920	CV927268	single nucleotide variant	NM_001036.6(RYR3):c.251C>T (p.Ala84Val)	Epileptic encephalopathy [RCV001217309]	uncertain significance	15	33503710	33503710	Human	2	name
126755997	CV996169	single nucleotide variant	NM_001036.6(RYR3):c.193G>A (p.Val65Ile)	Epileptic encephalopathy [RCV001298476]\|not specified [RCV004036107]	uncertain significance	15	33503652	33503652	Human	2	name
126769824	CV1011403	single nucleotide variant	NM_001036.6(RYR3):c.859C>T (p.Arg287Trp)	Epileptic encephalopathy [RCV001322199]	uncertain significance	15	33550203	33550203	Human	2	name
126730399	CV1011416	single nucleotide variant	NM_001036.6(RYR3):c.4128C>T (p.Gly1376=)	Epileptic encephalopathy [RCV001312857]	likely benign\|uncertain significance	15	33649221	33649221	Human	2	name
126734884	CV1031911	single nucleotide variant	NM_001036.6(RYR3):c.454A>T (p.Ile152Leu)	Epileptic encephalopathy [RCV001350012]	uncertain significance	15	33539370	33539370	Human	2	name
126774055	CV1031912	single nucleotide variant	NM_001036.6(RYR3):c.821G>T (p.Ser274Ile)	Epileptic encephalopathy [RCV001346783]	uncertain significance	15	33550165	33550165	Human	2	name
126758012	CV1031938	single nucleotide variant	NM_001036.6(RYR3):c.8058G>A (p.Val2686=)	Epileptic encephalopathy [RCV001339733]	likely benign\|uncertain significance	15	33748182	33748182	Human	2	name
126922485	CV1048856	single nucleotide variant	NM_001036.6(RYR3):c.454A>G (p.Ile152Val)	Epileptic encephalopathy [RCV001364728]\|not specified [RCV005271210]	uncertain significance	15	33539370	33539370	Human	2	name
126920352	CV1048857	single nucleotide variant	NM_001036.6(RYR3):c.571A>G (p.Ile191Val)	Epileptic encephalopathy [RCV001362826]	uncertain significance	15	33540815	33540815	Human	2	name
126924082	CV1048858	single nucleotide variant	NM_001036.6(RYR3):c.578T>G (p.Val193Gly)	Epileptic encephalopathy [RCV001366610]	uncertain significance	15	33540822	33540822	Human	2	name
126920386	CV1048859	single nucleotide variant	NM_001036.6(RYR3):c.625T>C (p.Ser209Pro)	Epileptic encephalopathy [RCV001362847]\|not specified [RCV004036850]	uncertain significance	15	33540869	33540869	Human	2	name
126912668	CV1048860	single nucleotide variant	NM_001036.6(RYR3):c.688C>G (p.His230Asp)	Epileptic encephalopathy [RCV001358901]	uncertain significance	15	33543663	33543663	Human	2	name
126921955	CV1048861	single nucleotide variant	NM_001036.6(RYR3):c.703A>G (p.Thr235Ala)	Epileptic encephalopathy [RCV001364097]	uncertain significance	15	33543678	33543678	Human	2	name
126913391	CV1048876	single nucleotide variant	NM_001036.6(RYR3):c.6699G>A (p.Arg2233=)	Epileptic encephalopathy [RCV001370085]	uncertain significance	15	33722794	33722794	Human	2	name
127281637	CV1080969	single nucleotide variant	NM_001036.6(RYR3):c.4287G>A (p.Lys1429=)	Epileptic encephalopathy [RCV001410612]	likely benign	15	33652862	33652862	Human	2	name
127248726	CV1080971	single nucleotide variant	NM_001036.6(RYR3):c.5232G>C (p.Arg1744=)	Epileptic encephalopathy [RCV001417201]	likely benign	15	33662762	33662762	Human	2	name
127252399	CV1080972	single nucleotide variant	NM_001036.6(RYR3):c.5256C>T (p.Pro1752=)	Epileptic encephalopathy [RCV001400347]	likely benign	15	33662786	33662786	Human	2	name
127242855	CV1080974	single nucleotide variant	NM_001036.6(RYR3):c.6003G>A (p.Arg2001=)	Epileptic encephalopathy [RCV001393411]	likely benign	15	33696360	33696360	Human	2	name
127280244	CV1080975	single nucleotide variant	NM_001036.6(RYR3):c.6090C>G (p.Val2030=)	Epileptic encephalopathy [RCV001409673]	likely benign	15	33696447	33696447	Human	2	name
127251962	CV1080976	single nucleotide variant	NM_001036.6(RYR3):c.6477C>T (p.Leu2159=)	Epileptic encephalopathy [RCV001417931]	likely benign	15	33701074	33701074	Human	2	name
127272062	CV1080978	single nucleotide variant	NM_001036.6(RYR3):c.6697C>A (p.Arg2233=)	Epileptic encephalopathy [RCV001405582]	likely benign	15	33722792	33722792	Human	2	name
127281317	CV1080979	single nucleotide variant	NM_001036.6(RYR3):c.6958C>T (p.Leu2320=)	Epileptic encephalopathy [RCV001410380]	likely benign	15	33726431	33726431	Human	2	name
127232852	CV1080981	single nucleotide variant	NM_001036.6(RYR3):c.7287C>G (p.Ala2429=)	Epileptic encephalopathy [RCV001413653]	likely benign	15	33731557	33731557	Human	2	name
127235921	CV1080982	single nucleotide variant	NM_001036.6(RYR3):c.7930C>T (p.Leu2644=)	Epileptic encephalopathy [RCV001391979]	likely benign	15	33746098	33746098	Human	2	name
127232618	CV1080983	single nucleotide variant	NM_001036.6(RYR3):c.8043T>C (p.Ala2681=)	Epileptic encephalopathy [RCV001413540]	likely benign	15	33748167	33748167	Human	2	name
127230657	CV1080984	single nucleotide variant	NM_001036.6(RYR3):c.8394T>G (p.Val2798=)	Epileptic encephalopathy [RCV001412593]	likely benign	15	33750281	33750281	Human	2	name
127275793	CV1080985	single nucleotide variant	NM_001036.6(RYR3):c.8439G>A (p.Glu2813=)	Epileptic encephalopathy [RCV001406896]	likely benign	15	33755104	33755104	Human	2	name
127239986	CV1102792	single nucleotide variant	NM_001036.6(RYR3):c.4233C>T (p.Ile1411=)	Epileptic encephalopathy [RCV001434110]	likely benign	15	33652808	33652808	Human	2	name
127242007	CV1102793	single nucleotide variant	NM_001036.6(RYR3):c.4365T>G (p.Ser1455=)	Epileptic encephalopathy [RCV001434532]	likely benign	15	33659776	33659776	Human	2	name
127263932	CV1102794	single nucleotide variant	NM_001036.6(RYR3):c.4398C>T (p.Asn1466=)	Epileptic encephalopathy [RCV001439463]\|RYR3-related disorder [RCV003973294]	likely benign	15	33660199	33660199	Human	3	name , alternate_id
127269134	CV1102795	single nucleotide variant	NM_001036.6(RYR3):c.4434A>G (p.Glu1478=)	Epileptic encephalopathy [RCV001440988]	likely benign	15	33660235	33660235	Human	2	name
127280450	CV1102796	single nucleotide variant	NM_001036.6(RYR3):c.4701G>C (p.Ala1567=)	Epileptic encephalopathy [RCV001446446]	likely benign	15	33662231	33662231	Human	2	name
127268834	CV1102797	single nucleotide variant	NM_001036.6(RYR3):c.5079G>A (p.Thr1693=)	Epileptic encephalopathy [RCV001430108]	likely benign	15	33662609	33662609	Human	2	name
127280439	CV1102798	single nucleotide variant	NM_001036.6(RYR3):c.5637C>T (p.Asn1879=)	Epileptic encephalopathy [RCV001446440]	likely benign	15	33669371	33669371	Human	2	name
127276267	CV1102799	single nucleotide variant	NM_001036.6(RYR3):c.5706C>T (p.Asp1902=)	Epileptic encephalopathy [RCV001443738]	likely benign	15	33669440	33669440	Human	2	name
127256386	CV1102801	single nucleotide variant	NM_001036.6(RYR3):c.6612C>T (p.Phe2204=)	Epileptic encephalopathy [RCV001437679]	likely benign	15	33707047	33707047	Human	2	name
127261492	CV1102802	single nucleotide variant	NM_001036.6(RYR3):c.7269G>C (p.Pro2423=)	Epileptic encephalopathy [RCV001428068]	likely benign	15	33731539	33731539	Human	2	name
127248231	CV1102803	single nucleotide variant	NM_001036.6(RYR3):c.7602G>A (p.Glu2534=)	Epileptic encephalopathy [RCV001424889]	likely benign	15	33738536	33738536	Human	2	name
127236812	CV1102804	single nucleotide variant	NM_001036.6(RYR3):c.7665C>T (p.Asp2555=)	Epileptic encephalopathy [RCV001422600]\|not provided [RCV004706129]	likely benign	15	33739840	33739840	Human	2	name
127273925	CV1102805	single nucleotide variant	NM_001036.6(RYR3):c.7782G>A (p.Ala2594=)	Epileptic encephalopathy [RCV001442747]	likely benign	15	33739957	33739957	Human	2	name
127283143	CV1102806	single nucleotide variant	NM_001036.6(RYR3):c.7941T>C (p.Asn2647=)	Epileptic encephalopathy [RCV001448315]	likely benign	15	33746109	33746109	Human	2	name
127240502	CV1102809	single nucleotide variant	NM_001036.6(RYR3):c.9468C>T (p.Ser3156=)	Epileptic encephalopathy [RCV001423354]	likely benign	15	33785861	33785861	Human	2	name
127243914	CV1102810	single nucleotide variant	NM_001036.6(RYR3):c.9516C>T (p.Ile3172=)	Epileptic encephalopathy [RCV001434928]	likely benign	15	33785909	33785909	Human	2	name
127280039	CV1102811	single nucleotide variant	NM_001036.6(RYR3):c.9630G>A (p.Leu3210=)	Epileptic encephalopathy [RCV001446180]	likely benign	15	33788258	33788258	Human	2	name
127289434	CV1124209	single nucleotide variant	NM_001036.6(RYR3):c.3507C>T (p.Ile1169=)	Epileptic encephalopathy [RCV001450903]	likely benign	15	33636501	33636501	Human	2	name
127310313	CV1124210	single nucleotide variant	NM_001036.6(RYR3):c.3516A>G (p.Lys1172=)	Epileptic encephalopathy [RCV001456585]	likely benign	15	33636510	33636510	Human	2	name
127315010	CV1124211	single nucleotide variant	NM_001036.6(RYR3):c.3636T>C (p.Phe1212=)	Epileptic encephalopathy [RCV001457882]	likely benign	15	33644390	33644390	Human	2	name
127327410	CV1124212	single nucleotide variant	NM_001036.6(RYR3):c.3966T>C (p.Ser1322=)	Epileptic encephalopathy [RCV001469072]	likely benign	15	33647448	33647448	Human	2	name
127306564	CV1124213	single nucleotide variant	NM_001036.6(RYR3):c.4242C>T (p.Leu1414=)	Epileptic encephalopathy [RCV001455560]	likely benign	15	33652817	33652817	Human	2	name
127306579	CV1124214	single nucleotide variant	NM_001036.6(RYR3):c.4674T>C (p.His1558=)	Epileptic encephalopathy [RCV001462811]	likely benign	15	33662204	33662204	Human	2	name
127315386	CV1124215	single nucleotide variant	NM_001036.6(RYR3):c.4711C>T (p.Leu1571=)	Epileptic encephalopathy [RCV001465200]	likely benign	15	33662241	33662241	Human	2	name
127314143	CV1124216	single nucleotide variant	NM_001036.6(RYR3):c.5859C>T (p.Pro1953=)	Epileptic encephalopathy [RCV001464871]	likely benign	15	33670555	33670555	Human	2	name
127307042	CV1124217	single nucleotide variant	NM_001036.6(RYR3):c.5988G>T (p.Leu1996=)	Epileptic encephalopathy [RCV001462910]	likely benign	15	33696345	33696345	Human	2	name
127307073	CV1124219	single nucleotide variant	NM_001036.6(RYR3):c.6261A>G (p.Pro2087=)	Epileptic encephalopathy [RCV001462918]	likely benign	15	33699715	33699715	Human	2	name
127298490	CV1124221	single nucleotide variant	NM_001036.6(RYR3):c.7266C>A (p.Leu2422=)	Epileptic encephalopathy [RCV001453332]	likely benign	15	33731536	33731536	Human	2	name
127334161	CV1124223	single nucleotide variant	NM_001036.6(RYR3):c.7905G>A (p.Gln2635=)	Epileptic encephalopathy [RCV001473422]	likely benign	15	33746073	33746073	Human	2	name
127329712	CV1124224	single nucleotide variant	NM_001036.6(RYR3):c.8034C>G (p.Thr2678=)	Epileptic encephalopathy [RCV001470384]	likely benign	15	33748158	33748158	Human	2	name
127335935	CV1124225	single nucleotide variant	NM_001036.6(RYR3):c.8067C>G (p.Thr2689=)	Epileptic encephalopathy [RCV001474621]	likely benign	15	33748191	33748191	Human	2	name
127296909	CV1124226	single nucleotide variant	NM_001036.6(RYR3):c.8160C>T (p.Pro2720=)	Epileptic encephalopathy [RCV001460132]	likely benign	15	33748491	33748491	Human	2	name
127332694	CV1124227	single nucleotide variant	NM_001036.6(RYR3):c.8265G>A (p.Leu2755=)	Epileptic encephalopathy [RCV001472402]	likely benign	15	33750044	33750044	Human	2	name
127328125	CV1124228	single nucleotide variant	NM_001036.6(RYR3):c.8352A>C (p.Ala2784=)	Epileptic encephalopathy [RCV001469440]	likely benign	15	33750239	33750239	Human	2	name
127314379	CV1124229	single nucleotide variant	NM_001036.6(RYR3):c.8658T>C (p.Leu2886=)	Epileptic encephalopathy [RCV001464941]	likely benign	15	33757549	33757549	Human	2	name
127294081	CV1124230	single nucleotide variant	NM_001036.6(RYR3):c.8961T>G (p.Ser2987=)	Epileptic encephalopathy [RCV001476717]	likely benign	15	33772064	33772064	Human	2	name
127291453	CV1124231	single nucleotide variant	NM_001036.6(RYR3):c.9021C>T (p.His3007=)	Epileptic encephalopathy [RCV001458741]	likely benign	15	33772124	33772124	Human	2	name
127298256	CV1124232	single nucleotide variant	NM_001036.6(RYR3):c.9111G>A (p.Gly3037=)	Epileptic encephalopathy [RCV001477862]	likely benign	15	33773589	33773589	Human	2	name
127306450	CV1124233	single nucleotide variant	NM_001036.6(RYR3):c.9345C>T (p.Asn3115=)	Epileptic encephalopathy [RCV001455524]	likely benign	15	33785738	33785738	Human	2	name
127289124	CV1124234	single nucleotide variant	NM_001036.6(RYR3):c.9393C>T (p.Ile3131=)	Epileptic encephalopathy [RCV001450795]	likely benign	15	33785786	33785786	Human	2	name
127289170	CV1124235	single nucleotide variant	NM_001036.6(RYR3):c.9714C>T (p.Ala3238=)	Epileptic encephalopathy [RCV001450811]	likely benign	15	33788342	33788342	Human	2	name
127318925	CV1124236	single nucleotide variant	NM_001036.6(RYR3):c.9810C>T (p.Ile3270=)	Epileptic encephalopathy [RCV001466402]	likely benign	15	33788438	33788438	Human	2	name
127295565	CV1124237	single nucleotide variant	NM_001036.6(RYR3):c.9969T>C (p.Asn3323=)	Epileptic encephalopathy [RCV001477122]\|not provided [RCV004704601]	likely benign	15	33801919	33801919	Human	2	name
127295032	CV1145071	single nucleotide variant	NM_001036.6(RYR3):c.3312G>A (p.Ala1104=)	Epileptic encephalopathy [RCV001497150]	likely benign	15	33635750	33635750	Human	2	name
127312732	CV1145073	single nucleotide variant	NM_001036.6(RYR3):c.4242C>G (p.Leu1414=)	Epileptic encephalopathy [RCV001501999]	likely benign	15	33652817	33652817	Human	2	name
127308101	CV1145074	single nucleotide variant	NM_001036.6(RYR3):c.4245G>T (p.Val1415=)	Epileptic encephalopathy [RCV001480509]	likely benign	15	33652820	33652820	Human	2	name
127320215	CV1145075	single nucleotide variant	NM_001036.6(RYR3):c.4413A>T (p.Ser1471=)	Epileptic encephalopathy [RCV001484097]	likely benign	15	33660214	33660214	Human	2	name
127333169	CV1145076	single nucleotide variant	NM_001036.6(RYR3):c.4452A>G (p.Pro1484=)	Epileptic encephalopathy [RCV001489978]	likely benign	15	33660253	33660253	Human	2	name
127315926	CV1145077	single nucleotide variant	NM_001036.6(RYR3):c.4707C>T (p.Cys1569=)	Epileptic encephalopathy [RCV001502871]	likely benign	15	33662237	33662237	Human	2	name
127318155	CV1145078	single nucleotide variant	NM_001036.6(RYR3):c.4941C>G (p.Ser1647=)	Epileptic encephalopathy [RCV001483424]	likely benign	15	33662471	33662471	Human	2	name
127322741	CV1145079	single nucleotide variant	NM_001036.6(RYR3):c.5184C>T (p.Leu1728=)	Epileptic encephalopathy [RCV001505209]	likely benign	15	33662714	33662714	Human	2	name
127310862	CV1145080	single nucleotide variant	NM_001036.6(RYR3):c.5355C>A (p.Ala1785=)	Epileptic encephalopathy [RCV001501476]\|not provided [RCV003399259]	likely benign	15	33662885	33662885	Human	2	name
127334354	CV1145081	single nucleotide variant	NM_001036.6(RYR3):c.5364G>A (p.Glu1788=)	Epileptic encephalopathy [RCV001490775]	likely benign	15	33662894	33662894	Human	2	name
127289925	CV1145083	single nucleotide variant	NM_001036.6(RYR3):c.5445C>T (p.Cys1815=)	Epileptic encephalopathy [RCV001495823]	likely benign	15	33663563	33663563	Human	2	name
127338085	CV1145085	single nucleotide variant	NM_001036.6(RYR3):c.5907G>A (p.Gln1969=)	Epileptic encephalopathy [RCV001493518]	likely benign	15	33696264	33696264	Human	2	name
127293464	CV1145086	single nucleotide variant	NM_001036.6(RYR3):c.6129G>T (p.Gly2043=)	Epileptic encephalopathy [RCV001496791]	likely benign	15	33696486	33696486	Human	2	name
127331654	CV1145087	single nucleotide variant	NM_001036.6(RYR3):c.6387G>A (p.Pro2129=)	Epileptic encephalopathy [RCV001488979]	likely benign	15	33700984	33700984	Human	2	name
127303287	CV1145088	single nucleotide variant	NM_001036.6(RYR3):c.6765G>A (p.Ala2255=)	Epileptic encephalopathy [RCV001479214]	likely benign	15	33722860	33722860	Human	2	name
127337780	CV1145089	single nucleotide variant	NM_001036.6(RYR3):c.6972C>A (p.Val2324=)	Epileptic encephalopathy [RCV001493068]	likely benign	15	33726445	33726445	Human	2	name
127327065	CV1145090	single nucleotide variant	NM_001036.6(RYR3):c.7008C>T (p.Pro2336=)	Epileptic encephalopathy [RCV001486210]	likely benign	15	33726481	33726481	Human	2	name
127309814	CV1145092	single nucleotide variant	NM_001036.6(RYR3):c.7245G>A (p.Arg2415=)	Epileptic encephalopathy [RCV001480992]	likely benign	15	33731515	33731515	Human	2	name
127331029	CV1145094	single nucleotide variant	NM_001036.6(RYR3):c.8640A>G (p.Ser2880=)	Epileptic encephalopathy [RCV001488557]	likely benign	15	33757531	33757531	Human	2	name
127301712	CV1145095	single nucleotide variant	NM_001036.6(RYR3):c.8928C>T (p.Phe2976=)	Epileptic encephalopathy [RCV001498925]	likely benign	15	33772031	33772031	Human	2	name
127304538	CV1145096	single nucleotide variant	NM_001036.6(RYR3):c.9558C>T (p.Ile3186=)	Epileptic encephalopathy [RCV001479526]	likely benign	15	33785951	33785951	Human	2	name
127330888	CV1145097	single nucleotide variant	NM_001036.6(RYR3):c.9708G>A (p.Leu3236=)	Epileptic encephalopathy [RCV001488437]	likely benign	15	33788336	33788336	Human	2	name
127304755	CV1157421	single nucleotide variant	NM_001036.6(RYR3):c.6717G>A (p.Gly2239=)	Epileptic encephalopathy [RCV001516025]\|not provided [RCV001655754]	benign	15	33722812	33722812	Human	2	name
127319674	CV1157423	single nucleotide variant	NM_001036.6(RYR3):c.7755G>A (p.Thr2585=)	Epileptic encephalopathy [RCV001522234]\|not provided [RCV004715471]	benign	15	33739930	33739930	Human	2	name
127304003	CV1157429	microsatellite	NM_001036.6(RYR3):c.14142+27_14142+46del	Epileptic encephalopathy [RCV001515702]	benign	15	33857920	33857939	Human		name
151663642	CV1334108	single nucleotide variant	NM_001036.6(RYR3):c.949G>A (p.Ala317Thr)	RYR3-related Epileptic encephalopathy [RCV001839282]\|not specified [RCV004041042]	uncertain significance	15	33550293	33550293	Human	1	name
151761114	CV1349538	single nucleotide variant	NM_001036.6(RYR3):c.809G>A (p.Arg270Gln)	Epileptic encephalopathy [RCV001949152]	uncertain significance	15	33548198	33548198	Human	2	name
152126049	CV1532432	single nucleotide variant	NM_001036.6(RYR3):c.9288G>A (p.Thr3096=)	Epileptic encephalopathy [RCV002118466]	likely benign	15	33785681	33785681	Human	2	name
152026804	CV1540316	single nucleotide variant	NM_001036.6(RYR3):c.8142C>T (p.Asn2714=)	Epileptic encephalopathy [RCV002104679]	likely benign	15	33748473	33748473	Human	2	name
152137232	CV1563358	single nucleotide variant	NM_001036.6(RYR3):c.3141C>T (p.Tyr1047=)	Epileptic encephalopathy [RCV002200107]	likely benign	15	33634699	33634699	Human	2	name
152058837	CV1569406	single nucleotide variant	NM_001036.6(RYR3):c.5118C>T (p.Ser1706=)	Epileptic encephalopathy [RCV002109870]	likely benign	15	33662648	33662648	Human	2	name
152107850	CV1579624	single nucleotide variant	NM_001036.6(RYR3):c.8997C>A (p.Pro2999=)	Epileptic encephalopathy [RCV002173952]	likely benign	15	33772100	33772100	Human	2	name
152175941	CV1580209	single nucleotide variant	NM_001036.6(RYR3):c.6552T>C (p.Asp2184=)	Epileptic encephalopathy [RCV002164079]	likely benign	15	33706987	33706987	Human	2	name
152068134	CV1588977	single nucleotide variant	NM_001036.6(RYR3):c.3702T>C (p.Ala1234=)	Epileptic encephalopathy [RCV002209623]	likely benign	15	33644456	33644456	Human	2	name
152040153	CV1608867	single nucleotide variant	NM_001036.6(RYR3):c.4992G>C (p.Gly1664=)	Epileptic encephalopathy [RCV002107619]	likely benign	15	33662522	33662522	Human	2	name
152040217	CV1640026	single nucleotide variant	NM_001036.6(RYR3):c.3291A>G (p.Gly1097=)	Epileptic encephalopathy [RCV002087849]	likely benign	15	33635729	33635729	Human	2	name
156096496	CV2106518	single nucleotide variant	NM_001036.6(RYR3):c.4734C>T (p.Tyr1578=)	Epileptic encephalopathy [RCV002952570]	likely benign	15	33662264	33662264	Human	2	name
156048700	CV2304448	single nucleotide variant	NM_001036.6(RYR3):c.835A>G (p.Arg279Gly)	not specified [RCV004164543]	uncertain significance	15	33550179	33550179	Human		name
401863178	CV2771981	single nucleotide variant	NM_001036.6(RYR3):c.910A>G (p.Ile304Val)	not specified [RCV004344667]	uncertain significance	15	33550254	33550254	Human		name
401916044	CV2817383	single nucleotide variant	NM_001036.6(RYR3):c.5076G>A (p.Arg1692=)	not provided [RCV003400845]	likely benign	15	33662606	33662606	Human		name
401916047	CV2817384	single nucleotide variant	NM_001036.6(RYR3):c.7272C>T (p.Leu2424=)	not provided [RCV003400846]	likely benign	15	33731542	33731542	Human		name
405049276	CV2856965	single nucleotide variant	NM_001036.6(RYR3):c.7839A>G (p.Lys2613=)	Epileptic encephalopathy [RCV003592596]\|RYR3-related disorder [RCV003966460]	likely benign	15	33742384	33742384	Human	3	name , alternate_id
405269827	CV3187503	single nucleotide variant	NM_001036.6(RYR3):c.773C>T (p.Thr258Ile)	not provided [RCV003887587]	uncertain significance	15	33548162	33548162	Human		name
405286609	CV3192249	single nucleotide variant	NM_001036.6(RYR3):c.4491C>T (p.Pro1497=)	RYR3-related disorder [RCV003924151]	likely benign	15	33660292	33660292	Human		name , trait , alternate_id
405271555	CV3202901	single nucleotide variant	NM_001036.6(RYR3):c.4986G>A (p.Lys1662=)	RYR3-related disorder [RCV003913962]	likely benign	15	33662516	33662516	Human		name , trait , alternate_id
405271828	CV3206296	single nucleotide variant	NM_001036.6(RYR3):c.4626T>C (p.Cys1542=)	RYR3-related disorder [RCV003971928]	likely benign	15	33662156	33662156	Human		name , trait , alternate_id
405266163	CV3215810	single nucleotide variant	NM_001036.6(RYR3):c.3561C>T (p.Phe1187=)	RYR3-related disorder [RCV003946958]	likely benign	15	33644315	33644315	Human		name , trait , alternate_id
405701845	CV3310129	single nucleotide variant	NM_001036.6(RYR3):c.392A>G (p.Asp131Gly)	not specified [RCV004447207]	uncertain significance	15	33533348	33533348	Human		name
405701951	CV3310145	single nucleotide variant	NM_001036.6(RYR3):c.981G>C (p.Lys327Asn)	not specified [RCV004447223]	uncertain significance	15	33562845	33562845	Human		name
407514362	CV3473312	single nucleotide variant	NM_001036.6(RYR3):c.425A>G (p.His142Arg)	not specified [RCV004674406]	uncertain significance	15	33533381	33533381	Human		name
407514348	CV3473332	single nucleotide variant	NM_001036.6(RYR3):c.754G>A (p.Glu252Lys)	not specified [RCV004674413]	uncertain significance	15	33548143	33548143	Human		name
407476011	CV3494827	single nucleotide variant	NM_001036.6(RYR3):c.8154T>G (p.Pro2718=)	not specified [RCV004690728]	likely benign	15	33748485	33748485	Human		name
597734462	CV3597842	single nucleotide variant	NM_001036.6(RYR3):c.751T>G (p.Tyr251Asp)	not specified [RCV004863484]	uncertain significance	15	33548140	33548140	Human		name
12834021	CV373366	single nucleotide variant	NM_001036.6(RYR3):c.4296C>T (p.Gly1432=)	Epileptic encephalopathy [RCV000951367]\|RYR3-related disorder [RCV003902509]\|not provided [RCV004705544]\|not specified [RCV000419607]	benign\|likely benign	15	33652871	33652871	Human	3	name , alternate_id
598207405	CV3910203	single nucleotide variant	NM_001036.6(RYR3):c.501T>G (p.Ile167Met)	not specified [RCV005270038]	uncertain significance	15	33539417	33539417	Human		name
598207438	CV3910207	single nucleotide variant	NM_001036.6(RYR3):c.764G>A (p.Gly255Glu)	not specified [RCV005270042]	uncertain significance	15	33548153	33548153	Human		name
13492779	CV464012	single nucleotide variant	NM_001036.6(RYR3):c.4473C>T (p.Asp1491=)	Epileptic encephalopathy [RCV000557697]\|not provided [RCV003403278]	benign\|likely benign	15	33660274	33660274	Human	2	name
13499339	CV464029	single nucleotide variant	NM_001036.6(RYR3):c.4701G>A (p.Ala1567=)	Epileptic encephalopathy [RCV000539774]\|RYR3-related disorder [RCV003935435]\|not provided [RCV003403279]	benign\|likely benign	15	33662231	33662231	Human	3	name , alternate_id
13475947	CV464040	single nucleotide variant	NM_001036.6(RYR3):c.5959C>A (p.Arg1987=)	Epileptic encephalopathy [RCV000548951]	benign	15	33696316	33696316	Human	2	name
13503868	CV464045	single nucleotide variant	NM_001036.6(RYR3):c.6624G>A (p.Glu2208=)	Epileptic encephalopathy [RCV000547947]	likely benign	15	33722719	33722719	Human	2	name
13502006	CV464050	single nucleotide variant	NM_001036.6(RYR3):c.6708G>A (p.Gly2236=)	Epileptic encephalopathy [RCV000541534]	likely benign	15	33722803	33722803	Human	2	name
13488916	CV464052	single nucleotide variant	NM_001036.6(RYR3):c.7062G>A (p.Ala2354=)	Epileptic encephalopathy [RCV000532635]\|not provided [RCV004715275]	benign	15	33728885	33728885	Human	2	name
13470959	CV464064	single nucleotide variant	NM_001036.6(RYR3):c.7467C>T (p.Leu2489=)	Epileptic encephalopathy [RCV000546540]	likely benign	15	33736277	33736277	Human	2	name
13491964	CV464066	single nucleotide variant	NM_001036.6(RYR3):c.7749A>G (p.Thr2583=)	Epileptic encephalopathy [RCV000534593]	likely benign	15	33739924	33739924	Human	2	name
13496006	CV464076	single nucleotide variant	NM_001036.6(RYR3):c.9759C>T (p.Asp3253=)	Epileptic encephalopathy [RCV000560049]\|not provided [RCV002275067]	benign\|likely benign	15	33788387	33788387	Human	2	name
13467664	CV464081	single nucleotide variant	NM_001036.6(RYR3):c.9816C>T (p.Tyr3272=)	Epileptic encephalopathy [RCV000544048]\|RYR3-related disorder [RCV003915533]\|not provided [RCV004715280]	benign	15	33788444	33788444	Human	3	name , alternate_id
13486352	CV464564	single nucleotide variant	NM_001036.6(RYR3):c.923G>A (p.Arg308Gln)	Epileptic encephalopathy [RCV000553691]\|not specified [RCV004023880]	conflicting interpretations of pathogenicity\|uncertain significance	15	33550267	33550267	Human	2	name
13469338	CV464609	single nucleotide variant	NM_001036.6(RYR3):c.5484A>G (p.Ala1828=)	Epileptic encephalopathy [RCV000545200]\|not provided [RCV003403280]	benign\|likely benign	15	33663602	33663602	Human	2	name
13499042	CV464616	single nucleotide variant	NM_001036.6(RYR3):c.6960G>C (p.Leu2320=)	Epileptic encephalopathy [RCV000539576]\|RYR3-related disorder [RCV003905365]	benign	15	33726433	33726433	Human	3	name , alternate_id
13471496	CV464621	single nucleotide variant	NM_001036.6(RYR3):c.7581C>T (p.Tyr2527=)	Epileptic encephalopathy [RCV000546889]\|RYR3-related disorder [RCV003905366]\|not provided [RCV004716535]	benign	15	33738515	33738515	Human	3	name , alternate_id
13481475	CV464623	single nucleotide variant	NM_001036.6(RYR3):c.7719G>A (p.Leu2573=)	Epileptic encephalopathy [RCV000528985]	likely benign	15	33739894	33739894	Human	2	name
13502223	CV464629	single nucleotide variant	NM_001036.6(RYR3):c.7848C>T (p.Tyr2616=)	Epileptic encephalopathy [RCV000541775]\|not provided [RCV004704065]	likely benign	15	33742393	33742393	Human	2	name
13497384	CV464640	single nucleotide variant	NM_001036.6(RYR3):c.9006G>A (p.Thr3002=)	Epileptic encephalopathy [RCV000538572]	likely benign	15	33772109	33772109	Human	2	name
13495901	CV464657	single nucleotide variant	NM_001036.6(RYR3):c.9873C>G (p.Leu3291=)	Epileptic encephalopathy [RCV000537467]\|RYR3-related disorder [RCV003925625]\|not provided [RCV003403282]	benign\|likely benign	15	33800812	33800812	Human	3	name , alternate_id
13486255	CV464816	single nucleotide variant	NM_001036.6(RYR3):c.349G>A (p.Gly117Arg)	Epileptic encephalopathy [RCV000531164]	uncertain significance	15	33530661	33530661	Human	2	name
13486354	CV464821	single nucleotide variant	NM_001036.6(RYR3):c.938C>A (p.Thr313Asn)	Epileptic encephalopathy [RCV000531223]	uncertain significance	15	33550282	33550282	Human	2	name
13479790	CV464845	single nucleotide variant	NM_001036.6(RYR3):c.4821T>C (p.Tyr1607=)	Epileptic encephalopathy [RCV000528253]\|not provided [RCV003409786]	benign\|likely benign	15	33662351	33662351	Human	2	name
13492186	CV464850	single nucleotide variant	NM_001036.6(RYR3):c.5406C>T (p.Ser1802=)	Epileptic encephalopathy [RCV000557249]	likely benign	15	33662936	33662936	Human	2	name
13494661	CV464855	single nucleotide variant	NM_001036.6(RYR3):c.5982G>A (p.Gly1994=)	Epileptic encephalopathy [RCV000559069]\|RYR3-related disorder [RCV003960292]	likely benign	15	33696339	33696339	Human	3	name , alternate_id
13478239	CV464859	single nucleotide variant	NM_001036.6(RYR3):c.6444T>C (p.Asn2148=)	Epileptic encephalopathy [RCV000527538]\|not provided [RCV004715274]	benign	15	33701041	33701041	Human	2	name
13491897	CV464864	single nucleotide variant	NM_001036.6(RYR3):c.7632G>T (p.Gly2544=)	Epileptic encephalopathy [RCV000557053]\|not provided [RCV004715277]	benign	15	33738566	33738566	Human	2	name
13465329	CV464873	single nucleotide variant	NM_001036.6(RYR3):c.7089A>T (p.Ala2363=)	Epileptic encephalopathy [RCV000542759]	likely benign	15	33728912	33728912	Human	2	name
13504311	CV464878	single nucleotide variant	NM_001036.6(RYR3):c.7827C>G (p.Ser2609=)	Epileptic encephalopathy [RCV000527039]\|RYR3-related disorder [RCV003925622]\|not provided [RCV003409787]	benign\|likely benign	15	33742372	33742372	Human	3	name , alternate_id
13494073	CV464888	single nucleotide variant	NM_001036.6(RYR3):c.8703C>T (p.Ala2901=)	Epileptic encephalopathy [RCV000536127]\|not provided [RCV003884606]	likely benign	15	33757594	33757594	Human	2	name
13483199	CV464889	single nucleotide variant	NM_001036.6(RYR3):c.8481C>T (p.Tyr2827=)	Epileptic encephalopathy [RCV000529748]\|RYR3-related disorder [RCV003962494]\|not provided [RCV002263764]	benign\|likely benign	15	33755146	33755146	Human	3	name , alternate_id
13480179	CV464891	single nucleotide variant	NM_001036.6(RYR3):c.8997C>T (p.Pro2999=)	Epileptic encephalopathy [RCV000528415]\|not provided [RCV001675916]	benign	15	33772100	33772100	Human	2	name
13480212	CV464897	single nucleotide variant	NM_001036.6(RYR3):c.8724C>T (p.Ala2908=)	Epileptic encephalopathy [RCV000550866]\|RYR3-related disorder [RCV003925623]	likely benign	15	33768676	33768676	Human	3	name , alternate_id
13497922	CV464898	single nucleotide variant	NM_001036.6(RYR3):c.9225T>C (p.Asn3075=)	Epileptic encephalopathy [RCV001409496]	likely benign	15	33780298	33780298	Human	2	name
13611222	CV514668	single nucleotide variant	NM_001036.6(RYR3):c.775C>T (p.Arg259Ter)	not provided [RCV000627383]	uncertain significance	15	33548164	33548164	Human		name
13605697	CV528626	single nucleotide variant	NM_001036.6(RYR3):c.766G>A (p.Ala256Thr)	Epileptic encephalopathy [RCV000637107]	uncertain significance	15	33548155	33548155	Human	2	name
13605822	CV528630	single nucleotide variant	NM_001036.6(RYR3):c.3609C>T (p.Leu1203=)	Epileptic encephalopathy [RCV000637233]\|RYR3-related disorder [RCV003937918]	likely benign	15	33644363	33644363	Human	3	name , alternate_id
13605782	CV528636	single nucleotide variant	NM_001036.6(RYR3):c.5355C>T (p.Ala1785=)	Epileptic encephalopathy [RCV001396194]	likely benign	15	33662885	33662885	Human	2	name
13605850	CV528641	single nucleotide variant	NM_001036.6(RYR3):c.4611C>T (p.Pro1537=)	Epileptic encephalopathy [RCV000637261]\|not provided [RCV004715321]	benign	15	33660412	33660412	Human	2	name
13605785	CV528649	single nucleotide variant	NM_001036.6(RYR3):c.7689G>A (p.Leu2563=)	Epileptic encephalopathy [RCV000637204]\|not provided [RCV004716597]	benign	15	33739864	33739864	Human	2	name
13605823	CV528655	single nucleotide variant	NM_001036.6(RYR3):c.6684C>T (p.Phe2228=)	Epileptic encephalopathy [RCV000637234]	likely benign	15	33722779	33722779	Human	2	name
13605860	CV528657	single nucleotide variant	NM_001036.6(RYR3):c.8667C>T (p.Ser2889=)	Epileptic encephalopathy [RCV001495308]	likely benign	15	33757558	33757558	Human	2	name
13605838	CV528676	single nucleotide variant	NM_001036.6(RYR3):c.8016G>A (p.Ala2672=)	Epileptic encephalopathy [RCV000637249]\|not provided [RCV003403466]	likely benign	15	33748140	33748140	Human	2	name
13605789	CV528697	single nucleotide variant	NM_001036.6(RYR3):c.8748C>T (p.Ser2916=)	Epileptic encephalopathy [RCV000637200]	likely benign	15	33768700	33768700	Human	2	name
13605703	CV529002	single nucleotide variant	NM_001036.6(RYR3):c.418C>T (p.Arg140Trp)	Epileptic encephalopathy [RCV000637113]	uncertain significance	15	33533374	33533374	Human	2	name
13605830	CV529006	single nucleotide variant	NM_001036.6(RYR3):c.4380A>G (p.Glu1460=)	Epileptic encephalopathy [RCV000637242]	likely benign	15	33659791	33659791	Human	2	name
13605834	CV529010	single nucleotide variant	NM_001036.6(RYR3):c.4468C>T (p.Leu1490=)	Epileptic encephalopathy [RCV000637246]\|not provided [RCV004716598]	benign	15	33660269	33660269	Human	2	name
13605780	CV529017	single nucleotide variant	NM_001036.6(RYR3):c.5256C>G (p.Pro1752=)	Epileptic encephalopathy [RCV000637209]	likely benign	15	33662786	33662786	Human	2	name
13605724	CV529029	single nucleotide variant	NM_001036.6(RYR3):c.5568G>A (p.Ala1856=)	Epileptic encephalopathy [RCV000637134]\|RYR3-related disorder [RCV003980234]	likely benign\|uncertain significance	15	33663686	33663686	Human	3	name , alternate_id
13605770	CV529031	single nucleotide variant	NM_001036.6(RYR3):c.5802C>A (p.Ile1934=)	Epileptic encephalopathy [RCV001443557]	likely benign	15	33670498	33670498	Human	2	name
13605797	CV529034	single nucleotide variant	NM_001036.6(RYR3):c.5997G>A (p.Ala1999=)	Epileptic encephalopathy [RCV000637192]	likely benign	15	33696354	33696354	Human	2	name
13605892	CV529055	single nucleotide variant	NM_001036.6(RYR3):c.8943G>A (p.Thr2981=)	Epileptic encephalopathy [RCV000637274]	likely benign	15	33772046	33772046	Human	2	name
13605783	CV529063	single nucleotide variant	NM_001036.6(RYR3):c.9354C>T (p.Ala3118=)	Epileptic encephalopathy [RCV000637206]	likely benign	15	33785747	33785747	Human	2	name
13605828	CV529073	single nucleotide variant	NM_001036.6(RYR3):c.725A>G (p.Asn242Ser)	Epileptic encephalopathy [RCV000637240]	likely benign	15	33543700	33543700	Human	2	name
13605688	CV529082	single nucleotide variant	NM_001036.6(RYR3):c.991G>A (p.Asp331Asn)	Epileptic encephalopathy [RCV000637098]	uncertain significance	15	33562855	33562855	Human	2	name
13605837	CV529107	single nucleotide variant	NM_001036.6(RYR3):c.3954A>G (p.Gln1318=)	Epileptic encephalopathy [RCV000637248]\|not provided [RCV004704150]	likely benign	15	33647436	33647436	Human	2	name
13605889	CV529177	single nucleotide variant	NM_001036.6(RYR3):c.8865A>C (p.Ala2955=)	Epileptic encephalopathy [RCV000637271]	likely benign	15	33771968	33771968	Human	2	name
13811747	CV566933	single nucleotide variant	NM_001036.6(RYR3):c.4416G>A (p.Ala1472=)	Epileptic encephalopathy [RCV000688963]	likely benign\|uncertain significance	15	33660217	33660217	Human	2	name
13811945	CV568644	single nucleotide variant	NM_001036.6(RYR3):c.962G>A (p.Arg321Gln)	Epileptic encephalopathy [RCV000703377]\|not specified [RCV005268729]	uncertain significance	15	33550306	33550306	Human	2	name
13816006	CV568689	single nucleotide variant	NM_001036.6(RYR3):c.8706C>A (p.Gly2902=)	Epileptic encephalopathy [RCV000706076]	uncertain significance	15	33768658	33768658	Human	2	name
13817334	CV569238	single nucleotide variant	NM_001036.6(RYR3):c.592A>G (p.Met198Val)	Epileptic encephalopathy [RCV000706951]\|not provided [RCV001836869]	uncertain significance	15	33540836	33540836	Human	2	name
13803446	CV569244	single nucleotide variant	NM_001036.6(RYR3):c.720C>A (p.Asp240Glu)	Epileptic encephalopathy [RCV000699249]	uncertain significance	15	33543695	33543695	Human	2	name
13815721	CV573146	single nucleotide variant	NM_001036.6(RYR3):c.808C>T (p.Arg270Trp)	Epileptic encephalopathy [RCV000705885]	uncertain significance	15	33548197	33548197	Human	2	name
13816665	CV573147	single nucleotide variant	NM_001036.6(RYR3):c.961C>T (p.Arg321Trp)	Epileptic encephalopathy [RCV000692476]	uncertain significance	15	33550305	33550305	Human	2	name
14724943	CV643013	single nucleotide variant	NM_001036.6(RYR3):c.526G>A (p.Val176Met)	Epileptic encephalopathy [RCV000814991]	uncertain significance	15	33539442	33539442	Human	2	name
14724725	CV643014	single nucleotide variant	NM_001036.6(RYR3):c.556G>A (p.Val186Ile)	Epileptic encephalopathy [RCV000814898]\|RYR3-related Epileptic encephalopathy [RCV004799240]	uncertain significance	15	33540800	33540800	Human	3	name
14706488	CV643015	single nucleotide variant	NM_001036.6(RYR3):c.697T>C (p.Cys233Arg)	Epileptic encephalopathy [RCV000792016]	uncertain significance	15	33543672	33543672	Human	2	name
14725552	CV643016	single nucleotide variant	NM_001036.6(RYR3):c.776G>A (p.Arg259Gln)	Epileptic encephalopathy [RCV000815246]\|not specified [RCV004857735]	uncertain significance	15	33548165	33548165	Human	2	name
14708597	CV643017	single nucleotide variant	NM_001036.6(RYR3):c.926C>T (p.Ala309Val)	Epileptic encephalopathy [RCV000792647]	uncertain significance	15	33550270	33550270	Human	2	name
14726300	CV643018	single nucleotide variant	NM_001036.6(RYR3):c.940A>G (p.Lys314Glu)	Epileptic encephalopathy [RCV000799148]	uncertain significance	15	33550284	33550284	Human	2	name
14731102	CV643045	single nucleotide variant	NM_001036.6(RYR3):c.5358C>T (p.Gly1786=)	Epileptic encephalopathy [RCV000817685]	likely benign\|uncertain significance	15	33662888	33662888	Human	2	name
14726966	CV643057	single nucleotide variant	NM_001036.6(RYR3):c.6912C>T (p.His2304=)	Epileptic encephalopathy [RCV000815865]	uncertain significance	15	33724176	33724176	Human	2	name
14716000	CV643060	single nucleotide variant	NM_001036.6(RYR3):c.7041G>A (p.Ser2347=)	Epileptic encephalopathy [RCV000794980]	likely benign\|uncertain significance	15	33728864	33728864	Human	2	name
15142510	CV693652	single nucleotide variant	NM_001036.6(RYR3):c.4521C>T (p.Phe1507=)	Epileptic encephalopathy [RCV000877882]\|RYR3-related disorder [RCV003938383]\|not provided [RCV004726720]	benign\|likely benign	15	33660322	33660322	Human	3	name , alternate_id
15145074	CV693653	single nucleotide variant	NM_001036.6(RYR3):c.9297C>T (p.Asp3099=)	Epileptic encephalopathy [RCV000878322]\|RYR3-related disorder [RCV003908361]\|not provided [RCV004705861]	likely benign	15	33785690	33785690	Human	3	name , alternate_id
15184114	CV703126	single nucleotide variant	NM_001036.6(RYR3):c.3480C>T (p.Ile1160=)	Epileptic encephalopathy [RCV000952627]	likely benign	15	33636474	33636474	Human	2	name
15180596	CV703127	single nucleotide variant	NM_001036.6(RYR3):c.3627C>G (p.Thr1209=)	Epileptic encephalopathy [RCV002547223]	likely benign	15	33644381	33644381	Human	2	name
15179388	CV703128	single nucleotide variant	NM_001036.6(RYR3):c.3816G>A (p.Thr1272=)	Epileptic encephalopathy [RCV001505364]	likely benign	15	33646401	33646401	Human	2	name
15154811	CV703129	single nucleotide variant	NM_001036.6(RYR3):c.4971G>A (p.Leu1657=)	Epileptic encephalopathy [RCV000946364]\|not provided [RCV004716637]	benign	15	33662501	33662501	Human	2	name
15190104	CV703130	single nucleotide variant	NM_001036.6(RYR3):c.5148G>A (p.Gly1716=)	Epileptic encephalopathy [RCV000954377]\|not provided [RCV004704371]	likely benign	15	33662678	33662678	Human	2	name
15152997	CV703132	single nucleotide variant	NM_001036.6(RYR3):c.6714C>T (p.Asn2238=)	Epileptic encephalopathy [RCV000945993]	likely benign	15	33722809	33722809	Human	2	name
15170466	CV714391	single nucleotide variant	NM_001036.6(RYR3):c.3240T>C (p.Tyr1080=)	Epileptic encephalopathy [RCV000972018]	likely benign	15	33635678	33635678	Human	2	name
15109828	CV714392	single nucleotide variant	NM_001036.6(RYR3):c.3348C>T (p.Ala1116=)	Epileptic encephalopathy [RCV000960778]\|RYR3-related disorder [RCV003926129]\|not provided [RCV004584836]	benign\|likely benign	15	33635786	33635786	Human	3	name , alternate_id
15109987	CV714393	single nucleotide variant	NM_001036.6(RYR3):c.4569G>A (p.Val1523=)	Epileptic encephalopathy [RCV000960811]	likely benign	15	33660370	33660370	Human	2	name
15108054	CV714394	single nucleotide variant	NM_001036.6(RYR3):c.4692C>T (p.Leu1564=)	Epileptic encephalopathy [RCV001511574]	benign	15	33662222	33662222	Human	2	name
15143687	CV714395	single nucleotide variant	NM_001036.6(RYR3):c.6886C>T (p.Leu2296=)	Epileptic encephalopathy [RCV001452022]	likely benign	15	33724150	33724150	Human	2	name
15109430	CV714396	single nucleotide variant	NM_001036.6(RYR3):c.7890C>T (p.Ala2630=)	Epileptic encephalopathy [RCV001435841]	likely benign	15	33742435	33742435	Human	2	name
15158727	CV714397	single nucleotide variant	NM_001036.6(RYR3):c.8026C>T (p.Leu2676=)	Epileptic encephalopathy [RCV001470120]	likely benign	15	33748150	33748150	Human	2	name
15177269	CV726004	single nucleotide variant	NM_001036.6(RYR3):c.3990C>T (p.Tyr1330=)	Epileptic encephalopathy [RCV000884782]	likely benign	15	33649083	33649083	Human	2	name
15202531	CV726005	single nucleotide variant	NM_001036.6(RYR3):c.4797C>T (p.Pro1599=)	Epileptic encephalopathy [RCV000891500]	likely benign	15	33662327	33662327	Human	2	name
15167945	CV726006	single nucleotide variant	NM_001036.6(RYR3):c.6009C>G (p.Thr2003=)	Epileptic encephalopathy [RCV000882955]	likely benign	15	33696366	33696366	Human	2	name
15188759	CV726007	single nucleotide variant	NM_001036.6(RYR3):c.6390G>A (p.Ser2130=)	Epileptic encephalopathy [RCV000887632]\|not provided [RCV003396529]	likely benign	15	33700987	33700987	Human	2	name
15169568	CV726008	single nucleotide variant	NM_001036.6(RYR3):c.6948C>T (p.Ile2316=)	Epileptic encephalopathy [RCV000883293]	likely benign	15	33726421	33726421	Human	2	name
15195141	CV726009	single nucleotide variant	NM_001036.6(RYR3):c.7248T>C (p.Tyr2416=)	not provided [RCV000889420]	likely benign	15	33731518	33731518	Human		name
15200746	CV726010	single nucleotide variant	NM_001036.6(RYR3):c.8304A>G (p.Pro2768=)	Epileptic encephalopathy [RCV000890996]	benign	15	33750191	33750191	Human	2	name
15169570	CV726011	single nucleotide variant	NM_001036.6(RYR3):c.9768G>A (p.Ala3256=)	Epileptic encephalopathy [RCV000883294]	likely benign	15	33788396	33788396	Human	2	name
15141142	CV739547	single nucleotide variant	NM_001036.6(RYR3):c.3303C>T (p.Val1101=)	Epileptic encephalopathy [RCV001454195]	likely benign	15	33635741	33635741	Human	2	name
15159023	CV739548	single nucleotide variant	NM_001036.6(RYR3):c.3336C>T (p.Val1112=)	Epileptic encephalopathy [RCV000902851]	likely benign	15	33635774	33635774	Human	2	name
15188501	CV739549	single nucleotide variant	NM_001036.6(RYR3):c.3933C>T (p.Phe1311=)	not provided [RCV000909386]	likely benign	15	33646518	33646518	Human		name
15166577	CV739550	single nucleotide variant	NM_001036.6(RYR3):c.4476C>G (p.Val1492=)	Epileptic encephalopathy [RCV001479560]	likely benign	15	33660277	33660277	Human	2	name
15186691	CV739551	single nucleotide variant	NM_001036.6(RYR3):c.4992G>A (p.Gly1664=)	Epileptic encephalopathy [RCV000908875]	likely benign	15	33662522	33662522	Human	2	name
15189915	CV739552	single nucleotide variant	NM_001036.6(RYR3):c.8385C>T (p.Gly2795=)	Epileptic encephalopathy [RCV000909793]	likely benign	15	33750272	33750272	Human	2	name
15133332	CV739553	single nucleotide variant	NM_001036.6(RYR3):c.8730C>T (p.Leu2910=)	Epileptic encephalopathy [RCV000898114]	likely benign	15	33768682	33768682	Human	2	name
15132543	CV739554	single nucleotide variant	NM_001036.6(RYR3):c.9765C>T (p.Phe3255=)	Epileptic encephalopathy [RCV000897974]	likely benign	15	33788393	33788393	Human	2	name
15118036	CV754367	single nucleotide variant	NM_001036.6(RYR3):c.3594C>T (p.Ile1198=)	Epileptic encephalopathy [RCV000917903]	likely benign	15	33644348	33644348	Human	2	name
15150139	CV754368	single nucleotide variant	NM_001036.6(RYR3):c.3738C>T (p.Asn1246=)	Epileptic encephalopathy [RCV002544966]	likely benign	15	33644492	33644492	Human	2	name
15161004	CV754369	single nucleotide variant	NM_001036.6(RYR3):c.4683G>A (p.Thr1561=)	Epileptic encephalopathy [RCV001415339]	likely benign	15	33662213	33662213	Human	2	name
15153807	CV754370	single nucleotide variant	NM_001036.6(RYR3):c.5109G>A (p.Val1703=)	Epileptic encephalopathy [RCV000924129]	likely benign	15	33662639	33662639	Human	2	name
15132411	CV754371	single nucleotide variant	NM_001036.6(RYR3):c.5610A>G (p.Pro1870=)	Epileptic encephalopathy [RCV000920336]	likely benign	15	33663728	33663728	Human	2	name
15149174	CV754373	single nucleotide variant	NM_001036.6(RYR3):c.6312C>T (p.Ser2104=)	Epileptic encephalopathy [RCV000923236]	likely benign	15	33699766	33699766	Human	2	name
15166765	CV754374	single nucleotide variant	NM_001036.6(RYR3):c.6690G>A (p.Pro2230=)	Epileptic encephalopathy [RCV001473291]	likely benign	15	33722785	33722785	Human	2	name
15166213	CV754375	single nucleotide variant	NM_001036.6(RYR3):c.6777C>G (p.Pro2259=)	Epileptic encephalopathy [RCV000926814]	likely benign	15	33722872	33722872	Human	2	name
15125015	CV754376	single nucleotide variant	NM_001036.6(RYR3):c.6894C>T (p.Arg2298=)	not provided [RCV000919080]	likely benign	15	33724158	33724158	Human		name
15156539	CV754377	single nucleotide variant	NM_001036.6(RYR3):c.7113C>T (p.Arg2371=)	not provided [RCV000924689]	likely benign	15	33728936	33728936	Human		name
15160757	CV754379	single nucleotide variant	NM_001036.6(RYR3):c.9105C>T (p.Ser3035=)	Epileptic encephalopathy [RCV001460884]	likely benign	15	33773583	33773583	Human	2	name
15129220	CV754380	single nucleotide variant	NM_001036.6(RYR3):c.9129T>C (p.Tyr3043=)	Epileptic encephalopathy [RCV001492635]	likely benign	15	33773607	33773607	Human	2	name
15129931	CV754381	single nucleotide variant	NM_001036.6(RYR3):c.9477A>G (p.Pro3159=)	Epileptic encephalopathy [RCV001392690]	likely benign	15	33785870	33785870	Human	2	name
15101927	CV770077	single nucleotide variant	NM_001036.6(RYR3):c.3177T>G (p.Ala1059=)	not provided [RCV000936894]	likely benign	15	33635615	33635615	Human		name
15125577	CV770078	single nucleotide variant	NM_001036.6(RYR3):c.3882C>T (p.Val1294=)	Epileptic encephalopathy [RCV001478224]	likely benign	15	33646467	33646467	Human	2	name
15189408	CV770079	single nucleotide variant	NM_001036.6(RYR3):c.3903C>T (p.Ser1301=)	Epileptic encephalopathy [RCV001404218]	likely benign	15	33646488	33646488	Human	2	name
15141843	CV770080	single nucleotide variant	NM_001036.6(RYR3):c.4467G>A (p.Arg1489=)	Epileptic encephalopathy [RCV000943969]	likely benign	15	33660268	33660268	Human	2	name
15176898	CV770081	single nucleotide variant	NM_001036.6(RYR3):c.4677C>T (p.Tyr1559=)	Epileptic encephalopathy [RCV001505423]	likely benign	15	33662207	33662207	Human	2	name
15176289	CV770082	single nucleotide variant	NM_001036.6(RYR3):c.4989C>T (p.Pro1663=)	not provided [RCV000928884]	likely benign	15	33662519	33662519	Human		name
15178116	CV770083	single nucleotide variant	NM_001036.6(RYR3):c.5217T>C (p.Asp1739=)	not provided [RCV000929318]	likely benign	15	33662747	33662747	Human		name
15181636	CV770084	single nucleotide variant	NM_001036.6(RYR3):c.5413C>T (p.Leu1805=)	Epileptic encephalopathy [RCV001393647]	likely benign	15	33662943	33662943	Human	2	name
15185334	CV770085	single nucleotide variant	NM_001036.6(RYR3):c.5622C>T (p.Ile1874=)	Epileptic encephalopathy [RCV000931028]	likely benign	15	33669356	33669356	Human	2	name
15186170	CV770086	single nucleotide variant	NM_001036.6(RYR3):c.7161T>C (p.Val2387=)	Epileptic encephalopathy [RCV000931275]	likely benign	15	33728984	33728984	Human	2	name
15199955	CV770087	single nucleotide variant	NM_001036.6(RYR3):c.7230G>A (p.Ala2410=)	Epileptic encephalopathy [RCV000935250]	likely benign	15	33731500	33731500	Human	2	name
15117643	CV770088	single nucleotide variant	NM_001036.6(RYR3):c.7341G>A (p.Gln2447=)	Epileptic encephalopathy [RCV001435477]	likely benign	15	33731611	33731611	Human	2	name
15146741	CV770089	single nucleotide variant	NM_001036.6(RYR3):c.7350C>T (p.Tyr2450=)	Epileptic encephalopathy [RCV001503273]	likely benign	15	33731620	33731620	Human	2	name
15103321	CV770090	single nucleotide variant	NM_001036.6(RYR3):c.7644G>A (p.Ser2548=)	Epileptic encephalopathy [RCV001465385]	likely benign	15	33738578	33738578	Human	2	name
15127660	CV784875	single nucleotide variant	NM_001036.6(RYR3):c.3070T>C (p.Leu1024=)	Epileptic encephalopathy [RCV001407890]	likely benign	15	33634628	33634628	Human	2	name
15128867	CV784876	single nucleotide variant	NM_001036.6(RYR3):c.3214C>A (p.Arg1072=)	Epileptic encephalopathy [RCV001490186]	likely benign	15	33635652	33635652	Human	2	name
15131066	CV784877	single nucleotide variant	NM_001036.6(RYR3):c.5367T>C (p.Ala1789=)	Epileptic encephalopathy [RCV000981149]	likely benign	15	33662897	33662897	Human	2	name
15113484	CV784878	single nucleotide variant	NM_001036.6(RYR3):c.5889G>A (p.Thr1963=)	Epileptic encephalopathy [RCV001502430]	likely benign	15	33696246	33696246	Human	2	name
15116486	CV784879	single nucleotide variant	NM_001036.6(RYR3):c.6525C>T (p.Pro2175=)	Epileptic encephalopathy [RCV001453447]	likely benign	15	33706960	33706960	Human	2	name
15108050	CV784880	single nucleotide variant	NM_001036.6(RYR3):c.6891C>T (p.Gly2297=)	Epileptic encephalopathy [RCV001418014]	likely benign	15	33724155	33724155	Human	2	name
15129470	CV784881	single nucleotide variant	NM_001036.6(RYR3):c.6966C>T (p.Ser2322=)	not provided [RCV000980883]	likely benign	15	33726439	33726439	Human		name
15138948	CV784882	single nucleotide variant	NM_001036.6(RYR3):c.7158G>A (p.Glu2386=)	Epileptic encephalopathy [RCV001457891]	likely benign	15	33728981	33728981	Human	2	name
15135949	CV784883	single nucleotide variant	NM_001036.6(RYR3):c.8244C>G (p.Ala2748=)	Epileptic encephalopathy [RCV001412280]	likely benign	15	33750023	33750023	Human	2	name
15142124	CV784884	single nucleotide variant	NM_001036.6(RYR3):c.8931C>G (p.Thr2977=)	Epileptic encephalopathy [RCV000983099]	likely benign	15	33772034	33772034	Human	2	name
15139342	CV784885	single nucleotide variant	NM_001036.6(RYR3):c.9705G>A (p.Gln3235=)	Epileptic encephalopathy [RCV001443649]	likely benign	15	33788333	33788333	Human	2	name
26892104	CV842137	single nucleotide variant	NM_001036.6(RYR3):c.639C>G (p.Ile213Met)	Epileptic encephalopathy [RCV001061351]	uncertain significance	15	33540883	33540883	Human	2	name
26902923	CV842138	single nucleotide variant	NM_001036.6(RYR3):c.674G>A (p.Arg225His)	Epileptic encephalopathy [RCV001069559]\|not specified [RCV004030718]	uncertain significance	15	33543649	33543649	Human	2	name
26919832	CV842139	single nucleotide variant	NM_001036.6(RYR3):c.704C>T (p.Thr235Met)	Epileptic encephalopathy [RCV001046469]	uncertain significance	15	33543679	33543679	Human	2	name
26917734	CV842140	single nucleotide variant	NM_001036.6(RYR3):c.860G>A (p.Arg287Gln)	Epileptic encephalopathy [RCV001042233]\|not specified [RCV004857750]	uncertain significance	15	33550204	33550204	Human	2	name
26915929	CV842167	single nucleotide variant	NM_001036.6(RYR3):c.4614G>A (p.Glu1538=)	Epileptic encephalopathy [RCV001039595]	uncertain significance	15	33660415	33660415	Human	2	name
26884545	CV842169	single nucleotide variant	NM_001036.6(RYR3):c.4698C>T (p.Ser1566=)	Epileptic encephalopathy [RCV001052023]	uncertain significance	15	33662228	33662228	Human	2	name
8635402	CV90623	single nucleotide variant	NM_001036.4(RYR3):c.647G>A (p.Gly216Glu)	Malignant melanoma [RCV000070721]	not provided	15	33543622	33543622	Human		name
38461108	CV919565	single nucleotide variant	NM_001036.6(RYR3):c.393C>A (p.Asp131Glu)	See cases [RCV001197271]	uncertain significance	15	33533349	33533349	Human		name
38476097	CV927269	single nucleotide variant	NM_001036.6(RYR3):c.840G>A (p.Trp280Ter)	Epileptic encephalopathy [RCV001215482]	uncertain significance	15	33550184	33550184	Human	2	name
38477987	CV936858	single nucleotide variant	NM_001036.6(RYR3):c.565G>A (p.Gly189Ser)	Epileptic encephalopathy [RCV001205345]	uncertain significance	15	33540809	33540809	Human	2	name
38482844	CV936859	single nucleotide variant	NM_001036.6(RYR3):c.877C>T (p.His293Tyr)	Epileptic encephalopathy [RCV001207425]	uncertain significance	15	33550221	33550221	Human	2	name
38490336	CV936875	single nucleotide variant	NM_001036.6(RYR3):c.5721T>C (p.Cys1907=)	Epileptic encephalopathy [RCV001210610]	uncertain significance	15	33669455	33669455	Human	2	name
38496006	CV948811	single nucleotide variant	NM_001036.6(RYR3):c.922C>T (p.Arg308Trp)	Epileptic encephalopathy [RCV001226102]	uncertain significance	15	33550266	33550266	Human	2	name
38493135	CV957382	single nucleotide variant	NM_001036.6(RYR3):c.683A>G (p.His228Arg)	Epileptic encephalopathy [RCV001240447]	uncertain significance	15	33543658	33543658	Human	2	name
38498631	CV957383	single nucleotide variant	NM_001036.6(RYR3):c.708A>G (p.Ile236Met)	Epileptic encephalopathy [RCV001243934]\|not specified [RCV004034767]	uncertain significance	15	33543683	33543683	Human	2	name
41407101	CV980722	single nucleotide variant	NM_001036.6(RYR3):c.302G>A (p.Arg101Lys)	RYR3-related Epileptic encephalopathy [RCV004799601]\|not specified [RCV005269036]	uncertain significance	15	33530614	33530614	Human	1	name
126757767	CV996170	single nucleotide variant	NM_001036.6(RYR3):c.511C>T (p.Leu171Phe)	Epileptic encephalopathy [RCV001308519]	uncertain significance	15	33539427	33539427	Human	2	name
126766763	CV996199	single nucleotide variant	NM_001036.6(RYR3):c.8835C>G (p.Gly2945=)	Epileptic encephalopathy [RCV001302022]	uncertain significance	15	33771938	33771938	Human	2	name
126725447	CV996203	single nucleotide variant	NM_001036.6(RYR3):c.9234G>A (p.Ser3078=)	Epileptic encephalopathy [RCV001302569]\|not provided [RCV004692450]	likely benign\|uncertain significance	15	33780307	33780307	Human	2	name
126734968	CV1011405	single nucleotide variant	NM_001036.6(RYR3):c.1186A>G (p.Thr396Ala)	Epileptic encephalopathy [RCV001324453]	uncertain significance	15	33566717	33566717	Human	2	name
126729111	CV1011406	single nucleotide variant	NM_001036.6(RYR3):c.1247C>T (p.Ala416Val)	Epileptic encephalopathy [RCV001312642]	uncertain significance	15	33566778	33566778	Human	2	name
126730967	CV1011407	single nucleotide variant	NM_001036.6(RYR3):c.1606G>T (p.Ala536Ser)	Epileptic encephalopathy [RCV001312956]	uncertain significance	15	33584427	33584427	Human	2	name
126769798	CV1011408	single nucleotide variant	NM_001036.6(RYR3):c.1876C>T (p.Arg626Trp)	Epileptic encephalopathy [RCV001322186]	uncertain significance	15	33601506	33601506	Human	2	name
126759210	CV1011409	single nucleotide variant	NM_001036.6(RYR3):c.1924A>G (p.Ile642Val)	Epileptic encephalopathy [RCV001317999]	uncertain significance	15	33603124	33603124	Human	2	name
126747563	CV1011410	single nucleotide variant	NM_001036.6(RYR3):c.2028G>T (p.Glu676Asp)	Epileptic encephalopathy [RCV001315367]	uncertain significance	15	33603228	33603228	Human	2	name
126735908	CV1011411	single nucleotide variant	NM_001036.6(RYR3):c.2457G>T (p.Met819Ile)	Epileptic encephalopathy [RCV001313781]	uncertain significance	15	33623906	33623906	Human	2	name
126764742	CV1031914	single nucleotide variant	NM_001036.6(RYR3):c.1341C>G (p.Ile447Met)	Epileptic encephalopathy [RCV001341769]	uncertain significance	15	33580048	33580048	Human	2	name
126725213	CV1031915	single nucleotide variant	NM_001036.6(RYR3):c.1912G>C (p.Asp638His)	Epileptic encephalopathy [RCV001348081]	uncertain significance	15	33601542	33601542	Human	2	name
126763329	CV1031916	single nucleotide variant	NM_001036.6(RYR3):c.1927C>T (p.Arg643Trp)	Epileptic encephalopathy [RCV001341236]\|not provided [RCV003987840]	uncertain significance\|not provided	15	33603127	33603127	Human	2	name
126760204	CV1031917	single nucleotide variant	NM_001036.6(RYR3):c.2255G>A (p.Ser752Asn)	Epileptic encephalopathy [RCV001340346]	uncertain significance	15	33613273	33613273	Human	2	name
126758299	CV1031918	single nucleotide variant	NM_001036.6(RYR3):c.2864A>G (p.Lys955Arg)	Epileptic encephalopathy [RCV001339809]	uncertain significance	15	33631290	33631290	Human	2	name
126727002	CV1031944	single nucleotide variant	NM_001036.6(RYR3):c.10155C>T (p.Gly3385=)	Epileptic encephalopathy [RCV001348603]	uncertain significance	15	33810607	33810607	Human	2	name
126924169	CV1048862	single nucleotide variant	NM_001036.6(RYR3):c.1014A>G (p.Ile338Met)	Epileptic encephalopathy [RCV001366715]	uncertain significance	15	33562878	33562878	Human	2	name
126908259	CV1048863	single nucleotide variant	NM_001036.6(RYR3):c.1805G>A (p.Cys602Tyr)	Epileptic encephalopathy [RCV001367731]	uncertain significance	15	33601435	33601435	Human	2	name
126918823	CV1048864	single nucleotide variant	NM_001036.6(RYR3):c.2005G>A (p.Val669Met)	Epileptic encephalopathy [RCV001361951]	uncertain significance	15	33603205	33603205	Human	2	name
126916845	CV1048868	deletion	NM_001036.6(RYR3):c.4766del (p.Leu1589fs)	Epileptic encephalopathy [RCV001360820]	uncertain significance	15	33662296	33662296	Human	2	name
126918684	CV1048888	single nucleotide variant	NM_001036.6(RYR3):c.13629A>G (p.Pro4543=)	Epileptic encephalopathy [RCV001372804]	uncertain significance	15	33853045	33853045	Human	2	name
127259491	CV1080988	single nucleotide variant	NM_001036.6(RYR3):c.11097G>A (p.Glu3699=)	Epileptic encephalopathy [RCV001401964]	likely benign	15	33825627	33825627	Human	2	name
127280811	CV1080989	single nucleotide variant	NM_001036.6(RYR3):c.11415T>C (p.Ala3805=)	Epileptic encephalopathy [RCV001410062]	likely benign	15	33831043	33831043	Human	2	name
127239332	CV1080990	single nucleotide variant	NM_001036.6(RYR3):c.12030C>A (p.Arg4010=)	Epileptic encephalopathy [RCV001415309]\|RYR3-related disorder [RCV003938714]	likely benign	15	33838010	33838010	Human	3	name , alternate_id
127230613	CV1080991	single nucleotide variant	NM_001036.6(RYR3):c.12558C>T (p.Ser4186=)	Epileptic encephalopathy [RCV001394771]	likely benign	15	33838538	33838538	Human	2	name
127258761	CV1080992	single nucleotide variant	NM_001036.6(RYR3):c.12696G>T (p.Leu4232=)	Epileptic encephalopathy [RCV001401749]	likely benign	15	33838676	33838676	Human	2	name
127233291	CV1080993	single nucleotide variant	NM_001036.6(RYR3):c.12819A>C (p.Gly4273=)	Epileptic encephalopathy [RCV001396064]	likely benign	15	33838799	33838799	Human	2	name
127230177	CV1080994	single nucleotide variant	NM_001036.6(RYR3):c.13197G>A (p.Gln4399=)	Epileptic encephalopathy [RCV001394607]	likely benign	15	33842023	33842023	Human	2	name
127272725	CV1080996	single nucleotide variant	NM_001036.6(RYR3):c.13782G>A (p.Ala4594=)	Epileptic encephalopathy [RCV001405787]	likely benign	15	33853665	33853665	Human	2	name
127241567	CV1080997	single nucleotide variant	NM_001036.6(RYR3):c.13878C>T (p.Ala4626=)	Epileptic encephalopathy [RCV001393181]	likely benign	15	33854783	33854783	Human	2	name
127254583	CV1080998	single nucleotide variant	NM_001036.6(RYR3):c.13899C>T (p.Val4633=)	Epileptic encephalopathy [RCV001400834]	likely benign	15	33854804	33854804	Human	2	name
127241931	CV1080999	single nucleotide variant	NM_001036.6(RYR3):c.14004A>G (p.Lys4668=)	Epileptic encephalopathy [RCV001398095]	likely benign	15	33854909	33854909	Human	2	name
127269178	CV1081001	single nucleotide variant	NM_001036.6(RYR3):c.14058G>T (p.Val4686=)	Epileptic encephalopathy [RCV001404582]\|RYR3-related disorder [RCV003908580]	likely benign	15	33857830	33857830	Human	3	name , alternate_id
127239292	CV1081002	single nucleotide variant	NM_001036.6(RYR3):c.14244C>G (p.Val4748=)	Epileptic encephalopathy [RCV001392676]	likely benign	15	33859676	33859676	Human	2	name
127258199	CV1081003	single nucleotide variant	NM_001036.6(RYR3):c.14583T>C (p.Phe4861=)	Epileptic encephalopathy [RCV001401648]	likely benign	15	33865196	33865196	Human	2	name
127282104	CV1102812	single nucleotide variant	NM_001036.6(RYR3):c.10075T>C (p.Leu3359=)	Epileptic encephalopathy [RCV001447625]	likely benign	15	33810527	33810527	Human	2	name
127254653	CV1102814	single nucleotide variant	NM_001036.6(RYR3):c.11329C>T (p.Leu3777=)	Epileptic encephalopathy [RCV001437299]	likely benign	15	33827282	33827282	Human	2	name
127236598	CV1102815	single nucleotide variant	NM_001036.6(RYR3):c.11352C>T (p.Phe3784=)	Epileptic encephalopathy [RCV001433374]	likely benign	15	33830980	33830980	Human	2	name
127261163	CV1102816	single nucleotide variant	NM_001036.6(RYR3):c.11838G>A (p.Lys3946=)	Epileptic encephalopathy [RCV001428022]	likely benign	15	33837818	33837818	Human	2	name
127258591	CV1102817	single nucleotide variant	NM_001036.6(RYR3):c.11853A>G (p.Gln3951=)	Epileptic encephalopathy [RCV001427375]	likely benign	15	33837833	33837833	Human	2	name
127272858	CV1102819	single nucleotide variant	NM_001036.6(RYR3):c.12874T>C (p.Leu4292=)	Epileptic encephalopathy [RCV001431433]	likely benign	15	33838854	33838854	Human	2	name
127247465	CV1102820	single nucleotide variant	NM_001036.6(RYR3):c.12885G>T (p.Gly4295=)	Epileptic encephalopathy [RCV001424708]	likely benign	15	33838865	33838865	Human	2	name
127249021	CV1102821	single nucleotide variant	NM_001036.6(RYR3):c.12975T>G (p.Ala4325=)	Epileptic encephalopathy [RCV001436005]	likely benign	15	33838955	33838955	Human	2	name
127273372	CV1102822	single nucleotide variant	NM_001036.6(RYR3):c.13107G>T (p.Val4369=)	Epileptic encephalopathy [RCV001442495]	likely benign	15	33841933	33841933	Human	2	name
127267448	CV1102823	single nucleotide variant	NM_001036.6(RYR3):c.13140G>A (p.Lys4380=)	Epileptic encephalopathy [RCV001429704]	likely benign	15	33841966	33841966	Human	2	name
127264587	CV1102825	single nucleotide variant	NM_001036.6(RYR3):c.13998T>C (p.Asn4666=)	Epileptic encephalopathy [RCV001439674]	likely benign	15	33854903	33854903	Human	2	name
127280822	CV1102826	single nucleotide variant	NM_001036.6(RYR3):c.14070C>T (p.Asn4690=)	Epileptic encephalopathy [RCV001446747]	likely benign	15	33857842	33857842	Human	2	name
127267447	CV1102828	single nucleotide variant	NM_001036.6(RYR3):c.14490T>C (p.Asn4830=)	Epileptic encephalopathy [RCV001440552]	likely benign	15	33864162	33864162	Human	2	name
127283540	CV1102830	single nucleotide variant	NM_001036.6(RYR3):c.14535G>A (p.Lys4845=)	Epileptic encephalopathy [RCV001448592]	likely benign	15	33865148	33865148	Human	2	name
127306664	CV1124238	single nucleotide variant	NM_001036.6(RYR3):c.10185G>A (p.Ser3395=)	Epileptic encephalopathy [RCV001455604]	likely benign	15	33810637	33810637	Human	2	name
127294452	CV1124240	single nucleotide variant	NM_001036.6(RYR3):c.10689C>T (p.Asn3563=)	Epileptic encephalopathy [RCV001476819]	likely benign	15	33818667	33818667	Human	2	name
127305775	CV1124241	single nucleotide variant	NM_001036.6(RYR3):c.10767A>G (p.Gln3589=)	Epileptic encephalopathy [RCV001462581]\|not provided [RCV005243558]	likely benign	15	33820764	33820764	Human	2	name
127297636	CV1124242	single nucleotide variant	NM_001036.6(RYR3):c.10977C>G (p.Gly3659=)	Epileptic encephalopathy [RCV001453103]	likely benign	15	33821584	33821584	Human	2	name
127287862	CV1124243	single nucleotide variant	NM_001036.6(RYR3):c.11793T>C (p.Tyr3931=)	Epileptic encephalopathy [RCV001450251]	likely benign	15	33837773	33837773	Human	2	name
127335967	CV1124244	single nucleotide variant	NM_001036.6(RYR3):c.11961C>T (p.Ala3987=)	Epileptic encephalopathy [RCV001474646]	likely benign	15	33837941	33837941	Human	2	name
127298789	CV1124245	single nucleotide variant	NM_001036.6(RYR3):c.12465C>T (p.Asp4155=)	Epileptic encephalopathy [RCV001460637]	likely benign	15	33838445	33838445	Human	2	name
127320189	CV1124246	single nucleotide variant	NM_001036.6(RYR3):c.13191C>T (p.Ile4397=)	Epileptic encephalopathy [RCV001466843]	likely benign	15	33842017	33842017	Human	2	name
127321277	CV1124247	single nucleotide variant	NM_001036.6(RYR3):c.13362C>T (p.Asp4454=)	Epileptic encephalopathy [RCV001467221]	likely benign	15	33844927	33844927	Human	2	name
127300219	CV1124248	single nucleotide variant	NM_001036.6(RYR3):c.13584A>G (p.Glu4528=)	Epileptic encephalopathy [RCV001453806]\|RYR3-related disorder [RCV003973315]\|not specified [RCV005271288]	likely benign	15	33848377	33848377	Human	3	name , alternate_id
127296204	CV1124249	single nucleotide variant	NM_001036.6(RYR3):c.13686T>C (p.Tyr4562=)	Epileptic encephalopathy [RCV001477282]	likely benign	15	33853569	33853569	Human	2	name
127309199	CV1124250	single nucleotide variant	NM_001036.6(RYR3):c.13842A>G (p.Gly4614=)	Epileptic encephalopathy [RCV001463520]	likely benign	15	33854431	33854431	Human	2	name
127332847	CV1145099	single nucleotide variant	NM_001036.6(RYR3):c.10101C>T (p.Ile3367=)	Epileptic encephalopathy [RCV001489804]	likely benign	15	33810553	33810553	Human	2	name
127312810	CV1145100	single nucleotide variant	NM_001036.6(RYR3):c.10269A>T (p.Pro3423=)	Epileptic encephalopathy [RCV001502019]	likely benign	15	33812874	33812874	Human	2	name
127287288	CV1145101	single nucleotide variant	NM_001036.6(RYR3):c.10419C>T (p.Ala3473=)	Epileptic encephalopathy [RCV001494846]	likely benign	15	33813496	33813496	Human	2	name
127323123	CV1145102	single nucleotide variant	NM_001036.6(RYR3):c.10656A>G (p.Pro3552=)	Epileptic encephalopathy [RCV001485159]	likely benign	15	33818634	33818634	Human	2	name
127286481	CV1145103	single nucleotide variant	NM_001036.6(RYR3):c.12513C>T (p.Asn4171=)	Epileptic encephalopathy [RCV001494270]	likely benign	15	33838493	33838493	Human	2	name
127335884	CV1145104	single nucleotide variant	NM_001036.6(RYR3):c.12583C>T (p.Leu4195=)	Epileptic encephalopathy [RCV001491769]	likely benign	15	33838563	33838563	Human	2	name
127301087	CV1145105	single nucleotide variant	NM_001036.6(RYR3):c.13152G>A (p.Pro4384=)	Epileptic encephalopathy [RCV001478587]	likely benign	15	33841978	33841978	Human	2	name
127325414	CV1145107	single nucleotide variant	NM_001036.6(RYR3):c.13536C>A (p.Ala4512=)	Epileptic encephalopathy [RCV001506012]	likely benign	15	33848329	33848329	Human	2	name
127332094	CV1145108	single nucleotide variant	NM_001036.6(RYR3):c.13572A>G (p.Glu4524=)	Epileptic encephalopathy [RCV001489267]	likely benign	15	33848365	33848365	Human	2	name
127305005	CV1145110	single nucleotide variant	NM_001036.6(RYR3):c.13734C>T (p.Asp4578=)	Epileptic encephalopathy [RCV001479684]	likely benign	15	33853617	33853617	Human	2	name
127320125	CV1145112	single nucleotide variant	NM_001036.6(RYR3):c.14475G>A (p.Leu4825=)	Epileptic encephalopathy [RCV001484075]	likely benign	15	33864147	33864147	Human	2	name
127303371	CV1157412	single nucleotide variant	NM_001036.6(RYR3):c.1480G>A (p.Val494Ile)	Epileptic encephalopathy [RCV001515456]\|not provided [RCV004716726]	benign	15	33581550	33581550	Human	2	name
127303823	CV1157414	single nucleotide variant	NM_001036.6(RYR3):c.2191A>G (p.Ile731Val)	Epileptic encephalopathy [RCV001515626]\|not provided [RCV004715450]	benign	15	33613209	33613209	Human	3	name
127303823	CV1157414	single nucleotide variant	NM_001036.6(RYR3):c.2191A>G (p.Ile731Val)	Epileptic encephalopathy [RCV001515626]\|not provided [RCV004715450]	benign	15	33613209	33613210	Human	3	name
127303375	CV1157424	single nucleotide variant	NM_001036.6(RYR3):c.10812C>T (p.Phe3604=)	Epileptic encephalopathy [RCV001515457]\|not provided [RCV004715449]	benign	15	33820809	33820809	Human	2	name
127319039	CV1157425	single nucleotide variant	NM_001036.6(RYR3):c.10881A>G (p.Ala3627=)	Epileptic encephalopathy [RCV001521927]\|not provided [RCV001709716]	benign	15	33821335	33821335	Human	2	name
127294741	CV1157428	single nucleotide variant	NM_001036.6(RYR3):c.13434T>G (p.Arg4478=)	Epileptic encephalopathy [RCV001511881]\|not provided [RCV004715435]	benign	15	33844999	33844999	Human	2	name
150453321	CV1203777	single nucleotide variant	NM_001036.6(RYR3):c.2108A>G (p.Asn703Ser)	See cases [RCV001591733]\|not specified [RCV004039488]	uncertain significance	15	33603308	33603308	Human		name
151824736	CV1350994	single nucleotide variant	NM_001036.6(RYR3):c.2695A>G (p.Lys899Glu)	Epileptic encephalopathy [RCV001919913]	uncertain significance	15	33629955	33629955	Human	2	name
151874192	CV1382441	single nucleotide variant	NM_001036.6(RYR3):c.1124G>A (p.Arg375His)	Epileptic encephalopathy [RCV002019329]	uncertain significance	15	33562988	33562988	Human	2	name
151737590	CV1422366	single nucleotide variant	NM_001036.6(RYR3):c.1471C>T (p.Arg491Cys)	Epileptic encephalopathy [RCV001984898]	uncertain significance	15	33581541	33581541	Human	2	name
151768266	CV1445417	single nucleotide variant	NM_001036.6(RYR3):c.1263T>G (p.Phe421Leu)	Epileptic encephalopathy [RCV002025109]	uncertain significance	15	33566794	33566794	Human	2	name
152037045	CV1521849	single nucleotide variant	NM_001036.6(RYR3):c.13939T>C (p.Leu4647=)	Epileptic encephalopathy [RCV002187678]	likely benign	15	33854844	33854844	Human	2	name
152055911	CV1583901	single nucleotide variant	NM_001036.6(RYR3):c.13749C>T (p.Asp4583=)	Epileptic encephalopathy [RCV002208082]	likely benign	15	33853632	33853632	Human	2	name
152170334	CV1592376	single nucleotide variant	NM_001036.6(RYR3):c.13026C>T (p.Ser4342=)	Epileptic encephalopathy [RCV002161735]	likely benign	15	33840872	33840872	Human	2	name
152138298	CV1603893	single nucleotide variant	NM_001036.6(RYR3):c.10800G>A (p.Lys3600=)	Epileptic encephalopathy [RCV002219025]	likely benign	15	33820797	33820797	Human	2	name
156409049	CV1880065	single nucleotide variant	NM_001036.6(RYR3):c.12177C>A (p.Pro4059=)	Epileptic encephalopathy [RCV003071510]	likely benign	15	33838157	33838157	Human	2	name
156211267	CV2117749	single nucleotide variant	NM_001036.6(RYR3):c.11880C>T (p.Asp3960=)	Epileptic encephalopathy [RCV002957754]	likely benign	15	33837860	33837860	Human	2	name
156182686	CV2201907	single nucleotide variant	NM_001036.6(RYR3):c.2870A>G (p.Tyr957Cys)	not specified [RCV004075490]	uncertain significance	15	33632951	33632951	Human		name
155920801	CV2211967	single nucleotide variant	NM_001036.6(RYR3):c.1016A>G (p.Glu339Gly)	not specified [RCV004087093]	uncertain significance	15	33562880	33562880	Human		name
156363686	CV2262681	single nucleotide variant	NM_001036.6(RYR3):c.2750A>T (p.Asn917Ile)	not specified [RCV004130874]	uncertain significance	15	33630010	33630010	Human		name
156071514	CV2267269	single nucleotide variant	NM_001036.6(RYR3):c.1586G>A (p.Arg529His)	not specified [RCV004133944]	uncertain significance	15	33584407	33584407	Human		name
156236233	CV2268118	single nucleotide variant	NM_001036.6(RYR3):c.2045T>G (p.Val682Gly)	not specified [RCV004138441]	uncertain significance	15	33603245	33603245	Human		name
155967768	CV2280508	single nucleotide variant	NM_001036.6(RYR3):c.2828C>T (p.Ala943Val)	not specified [RCV004142710]	uncertain significance	15	33631254	33631254	Human		name
156069093	CV2292695	single nucleotide variant	NM_001036.6(RYR3):c.2587C>T (p.Pro863Ser)	not specified [RCV004154377]	uncertain significance	15	33628483	33628483	Human		name
155971815	CV2309341	single nucleotide variant	NM_001036.6(RYR3):c.1510A>T (p.Ile504Phe)	not specified [RCV004165495]	uncertain significance	15	33581580	33581580	Human		name
156052824	CV2320332	single nucleotide variant	NM_001036.6(RYR3):c.1430A>G (p.Lys477Arg)	not specified [RCV004178494]	uncertain significance	15	33580137	33580137	Human		name
156222682	CV2343977	single nucleotide variant	NM_001036.6(RYR3):c.2794G>A (p.Ala932Thr)	not specified [RCV004195596]	uncertain significance	15	33631220	33631220	Human		name
156224674	CV2355678	single nucleotide variant	NM_001036.6(RYR3):c.2153A>G (p.His718Arg)	not specified [RCV004198634]	uncertain significance	15	33603353	33603353	Human		name
155997969	CV2396160	single nucleotide variant	NM_001036.6(RYR3):c.2606G>A (p.Arg869Gln)	not specified [RCV004240125]	uncertain significance	15	33628502	33628502	Human		name
329373052	CV2434088	single nucleotide variant	NM_001036.6(RYR3):c.1733A>G (p.Glu578Gly)	not specified [RCV004249987]	uncertain significance	15	33586061	33586061	Human		name
329394789	CV2461470	single nucleotide variant	NM_001036.6(RYR3):c.1624C>T (p.Leu542Phe)	not specified [RCV004267612]	uncertain significance	15	33584445	33584445	Human		name
401747135	CV2698793	single nucleotide variant	NM_001036.6(RYR3):c.2653A>G (p.Ile885Val)	not specified [RCV004301241]	uncertain significance	15	33628549	33628549	Human		name
401778872	CV2705817	single nucleotide variant	NM_001036.6(RYR3):c.2173C>T (p.Pro725Ser)	not specified [RCV004320436]	uncertain significance	15	33613191	33613191	Human		name
401913436	CV2801733	single nucleotide variant	NM_001036.6(RYR3):c.1951G>A (p.Ala651Thr)	RYR3-related disorder [RCV003400134]\|not provided [RCV004546794]	uncertain significance	15	33603151	33603151	Human	1	name , alternate_id
401916031	CV2817378	single nucleotide variant	NM_001036.6(RYR3):c.1775G>A (p.Gly592Glu)	not provided [RCV003400841]	uncertain significance	15	33586103	33586103	Human		name
401916033	CV2817379	single nucleotide variant	NM_001036.6(RYR3):c.2195A>G (p.Asn732Ser)	not provided [RCV003400842]	uncertain significance	15	33613213	33613213	Human		name
401916040	CV2817382	single nucleotide variant	NM_001036.6(RYR3):c.2945T>C (p.Leu982Ser)	not provided [RCV003400844]	uncertain significance	15	33633026	33633026	Human		name
401916057	CV2817388	single nucleotide variant	NM_001036.6(RYR3):c.12909C>G (p.Leu4303=)	not provided [RCV003400849]	likely benign	15	33838889	33838889	Human		name
401934275	CV2817389	single nucleotide variant	NM_001036.6(RYR3):c.13989A>T (p.Val4663=)	not provided [RCV003411138]	likely benign	15	33854894	33854894	Human		name
405271258	CV3218955	single nucleotide variant	NM_001036.6(RYR3):c.12021C>T (p.Asn4007=)	RYR3-related disorder [RCV003971691]	likely benign	15	33838001	33838001	Human		name , trait , alternate_id
405701811	CV3310124	single nucleotide variant	NM_001036.6(RYR3):c.1466T>C (p.Ile489Thr)	not specified [RCV004447202]	uncertain significance	15	33581536	33581536	Human		name
405701824	CV3310126	single nucleotide variant	NM_001036.6(RYR3):c.2684G>A (p.Arg895Gln)	not specified [RCV004447204]	uncertain significance	15	33629944	33629944	Human		name
405853005	CV3393436	single nucleotide variant	NM_001036.6(RYR3):c.1307T>C (p.Ile436Thr)	not provided [RCV004546166]	uncertain significance	15	33580014	33580014	Human		name
407425600	CV3409604	single nucleotide variant	NM_001036.6(RYR3):c.10014C>T (p.Ala3338=)	not provided [RCV004585536]	uncertain significance	15	33807557	33807557	Human		name
407468901	CV3473323	single nucleotide variant	NM_001036.6(RYR3):c.2692A>G (p.Asn898Asp)	not specified [RCV004661285]	uncertain significance	15	33629952	33629952	Human		name
407468911	CV3473328	single nucleotide variant	NM_001036.6(RYR3):c.1264G>T (p.Val422Phe)	not specified [RCV004661288]	uncertain significance	15	33566795	33566795	Human		name
407468914	CV3473331	single nucleotide variant	NM_001036.6(RYR3):c.2372T>A (p.Met791Lys)	not specified [RCV004661289]	uncertain significance	15	33623821	33623821	Human		name
407468916	CV3473333	single nucleotide variant	NM_001036.6(RYR3):c.1348T>A (p.Phe450Ile)	not specified [RCV004661290]	uncertain significance	15	33580055	33580055	Human		name
597734372	CV3597825	single nucleotide variant	NM_001036.6(RYR3):c.1208A>C (p.Glu403Ala)	not specified [RCV004863467]	uncertain significance	15	33566739	33566739	Human		name
597734397	CV3597830	single nucleotide variant	NM_001036.6(RYR3):c.2560G>A (p.Val854Ile)	not specified [RCV004863472]	likely benign	15	33624009	33624009	Human		name
597734472	CV3597844	single nucleotide variant	NM_001036.6(RYR3):c.1306A>G (p.Ile436Val)	not specified [RCV004863486]	uncertain significance	15	33580013	33580013	Human		name
597734477	CV3597845	single nucleotide variant	NM_001036.6(RYR3):c.2261C>T (p.Ser754Leu)	not specified [RCV004863487]	uncertain significance	15	33613279	33613279	Human		name
597734489	CV3597847	single nucleotide variant	NM_001036.6(RYR3):c.2470G>T (p.Val824Phe)	not specified [RCV004863489]	uncertain significance	15	33623919	33623919	Human		name
597734550	CV3597858	single nucleotide variant	NM_001036.6(RYR3):c.1667C>T (p.Ser556Leu)	not specified [RCV004863500]	uncertain significance	15	33584488	33584488	Human		name
597734618	CV3597870	single nucleotide variant	NM_001036.6(RYR3):c.1999G>A (p.Asp667Asn)	not specified [RCV004863512]	uncertain significance	15	33603199	33603199	Human		name
597734623	CV3597871	single nucleotide variant	NM_001036.6(RYR3):c.1748C>T (p.Ser583Leu)	not specified [RCV004863513]	uncertain significance	15	33586076	33586076	Human		name
597734636	CV3597873	single nucleotide variant	NM_001036.6(RYR3):c.1004A>G (p.Lys335Arg)	not specified [RCV004863515]	uncertain significance	15	33562868	33562868	Human		name
597709884	CV3707809	single nucleotide variant	NM_001036.6(RYR3):c.2371A>T (p.Met791Leu)	Congenital myopathy 20 [RCV005009531]	uncertain significance	15	33623820	33623820	Human	1	name
598129236	CV3888530	single nucleotide variant	NM_001036.6(RYR3):c.10839A>G (p.Lys3613=)	not provided [RCV005244704]	likely benign	15	33821293	33821293	Human		name
598207445	CV3910208	single nucleotide variant	NM_001036.6(RYR3):c.1711G>C (p.Glu571Gln)	not specified [RCV005270043]	uncertain significance	15	33586039	33586039	Human		name
598207468	CV3910212	single nucleotide variant	NM_001036.6(RYR3):c.2941A>G (p.Ile981Val)	not specified [RCV005270047]	uncertain significance	15	33633022	33633022	Human		name
616939990	CV4014285	single nucleotide variant	NM_001036.6(RYR3):c.1472G>C (p.Arg491Pro)	not provided [RCV005413779]	uncertain significance	15	33581542	33581542	Human		name
13476419	CV463972	single nucleotide variant	NM_001036.6(RYR3):c.1073T>C (p.Ile358Thr)	Epileptic encephalopathy [RCV000526731]\|not provided [RCV004716528]	benign	15	33562937	33562937	Human	2	name
13480059	CV463974	single nucleotide variant	NM_001036.6(RYR3):c.1277A>G (p.Asn426Ser)	Epileptic encephalopathy [RCV000550799]\|RYR3-related disorder [RCV003942774]\|not provided [RCV005411481]	benign\|likely benign	15	33579984	33579984	Human	3	name , alternate_id
13498976	CV463976	single nucleotide variant	NM_001036.6(RYR3):c.1295T>G (p.Ile432Ser)	Epileptic encephalopathy [RCV000539537]\|RYR3-related disorder [RCV003915528]	benign	15	33580002	33580002	Human	3	name , alternate_id
13491602	CV463981	single nucleotide variant	NM_001036.6(RYR3):c.1373G>A (p.Arg458Gln)	Epileptic encephalopathy [RCV000556837]\|not provided [RCV003409784]\|not specified [RCV004023870]	likely benign	15	33580080	33580080	Human	2	name
13489808	CV463982	single nucleotide variant	NM_001036.6(RYR3):c.1487A>G (p.Asn496Ser)	Epileptic encephalopathy [RCV000555548]	uncertain significance	15	33581557	33581557	Human	2	name
13481029	CV463994	single nucleotide variant	NM_001036.6(RYR3):c.2693A>G (p.Asn898Ser)	Epileptic encephalopathy [RCV000528783]	benign	15	33629953	33629953	Human	2	name
13497327	CV463997	single nucleotide variant	NM_001036.6(RYR3):c.2770A>G (p.Thr924Ala)	Epileptic encephalopathy [RCV000538508]\|RYR3-related disorder [RCV003942775]\|not provided [RCV004705656]\|not specified [RCV004023873]	likely benign\|uncertain significance	15	33630030	33630030	Human	3	name , alternate_id
13486878	CV464111	single nucleotide variant	NM_001036.6(RYR3):c.11289C>T (p.Thr3763=)	Epileptic encephalopathy [RCV000531497]\|not provided [RCV002510916]	benign\|likely benign	15	33827242	33827242	Human	2	name
13503860	CV464113	single nucleotide variant	NM_001036.6(RYR3):c.12516G>C (p.Val4172=)	Epileptic encephalopathy [RCV000547748]\|not provided [RCV001683561]	benign	15	33838496	33838496	Human	2	name
13489180	CV464130	single nucleotide variant	NM_001036.6(RYR3):c.13353C>G (p.Ser4451=)	Epileptic encephalopathy [RCV001473249]	likely benign	15	33844918	33844918	Human	2	name
13490821	CV464133	single nucleotide variant	NM_001036.6(RYR3):c.14028C>T (p.Leu4676=)	Epileptic encephalopathy [RCV001426485]	likely benign	15	33857800	33857800	Human	2	name
13478957	CV464135	single nucleotide variant	NM_001036.6(RYR3):c.14130C>T (p.Asp4710=)	Epileptic encephalopathy [RCV000527862]	likely benign	15	33857902	33857902	Human	2	name
13483917	CV464139	single nucleotide variant	NM_001036.6(RYR3):c.14280C>T (p.Ile4760=)	Epileptic encephalopathy [RCV000552523]\|RYR3-related disorder [RCV003925621]\|not provided [RCV002263763]	likely benign	15	33859712	33859712	Human	3	name , alternate_id
13488220	CV464576	single nucleotide variant	NM_001036.6(RYR3):c.1514C>T (p.Ala505Val)	Epileptic encephalopathy [RCV000554692]	uncertain significance	15	33581584	33581584	Human	2	name
13465527	CV464582	single nucleotide variant	NM_001036.6(RYR3):c.1828G>A (p.Val610Ile)	Epileptic encephalopathy [RCV000542886]\|not provided [RCV004715269]	benign	15	33601458	33601458	Human	2	name
13494477	CV464686	single nucleotide variant	NM_001036.6(RYR3):c.12129T>C (p.Arg4043=)	Epileptic encephalopathy [RCV000558938]\|not provided [RCV004715266]	benign	15	33838109	33838109	Human	2	name
13504397	CV464694	single nucleotide variant	NM_001036.6(RYR3):c.14118T>C (p.Asp4706=)	Epileptic encephalopathy [RCV000528818]\|not provided [RCV004716531]	benign	15	33857890	33857890	Human	2	name
13493534	CV464822	single nucleotide variant	NM_001036.6(RYR3):c.1354C>A (p.Pro452Thr)	Epileptic encephalopathy [RCV000558258]\|not specified [RCV004659091]	likely benign\|uncertain significance	15	33580061	33580061	Human	2	name
13468232	CV464826	single nucleotide variant	NM_001036.6(RYR3):c.1492G>A (p.Val498Ile)	Epileptic encephalopathy [RCV000544392]	uncertain significance	15	33581562	33581562	Human	2	name
13493876	CV464827	single nucleotide variant	NM_001036.6(RYR3):c.2221G>A (p.Val741Met)	Epileptic encephalopathy [RCV000558500]	uncertain significance	15	33613239	33613239	Human	2	name
13495219	CV464828	single nucleotide variant	NM_001036.6(RYR3):c.2486G>A (p.Arg829His)	Epileptic encephalopathy [RCV000536968]\|Flexion contracture [RCV001007845]\|not provided [RCV003403277]	likely benign\|uncertain significance	15	33623935	33623935	Human	4	name
13479087	CV464835	single nucleotide variant	NM_001036.6(RYR3):c.2599A>G (p.Lys867Glu)	Epileptic encephalopathy [RCV000550354]\|not specified [RCV004023872]	likely benign\|uncertain significance	15	33628495	33628495	Human	2	name
13504323	CV464839	single nucleotide variant	NM_001036.6(RYR3):c.2860C>T (p.Pro954Ser)	Epileptic encephalopathy [RCV000527290]	uncertain significance	15	33631286	33631286	Human	2	name
13495536	CV464902	single nucleotide variant	NM_001036.6(RYR3):c.10278A>G (p.Lys3426=)	Epileptic encephalopathy [RCV000537205]\|not provided [RCV004715263]	benign	15	33812883	33812883	Human	2	name
13496600	CV464907	single nucleotide variant	NM_001036.6(RYR3):c.10569C>A (p.Ser3523=)	Epileptic encephalopathy [RCV000537966]	benign	15	33816928	33816928	Human	2	name
13494217	CV464908	single nucleotide variant	NM_001036.6(RYR3):c.10113C>A (p.Leu3371=)	Epileptic encephalopathy [RCV001396170]	likely benign	15	33810565	33810565	Human	2	name
13474573	CV464911	single nucleotide variant	NM_001036.6(RYR3):c.10719C>T (p.Asp3573=)	Epileptic encephalopathy [RCV000548329]\|not provided [RCV004715264]	benign	15	33819768	33819768	Human	2	name
13480205	CV464915	single nucleotide variant	NM_001036.6(RYR3):c.10971C>T (p.Asn3657=)	Epileptic encephalopathy [RCV000528427]\|not provided [RCV003403275]	likely benign	15	33821578	33821578	Human	2	name
13485097	CV464925	single nucleotide variant	NM_001036.6(RYR3):c.11196G>A (p.Thr3732=)	Epileptic encephalopathy [RCV000553075]\|not provided [RCV003326455]	benign\|likely benign	15	33826703	33826703	Human	2	name
13469819	CV464926	single nucleotide variant	NM_001036.6(RYR3):c.11859G>A (p.Gln3953=)	Epileptic encephalopathy [RCV000545667]\|RYR3-related disorder [RCV003905363]\|not provided [RCV004704062]	likely benign	15	33837839	33837839	Human	3	name , alternate_id
13495812	CV464928	single nucleotide variant	NM_001036.6(RYR3):c.12381G>A (p.Ala4127=)	Epileptic encephalopathy [RCV000537405]	likely benign	15	33838361	33838361	Human	2	name
13483074	CV464929	single nucleotide variant	NM_001036.6(RYR3):c.11397G>A (p.Gln3799=)	Epileptic encephalopathy [RCV000552139]	likely benign	15	33831025	33831025	Human	2	name
13475191	CV464930	single nucleotide variant	NM_001036.6(RYR3):c.12558C>G (p.Ser4186=)	Epileptic encephalopathy [RCV000526175]\|not provided [RCV004716530]	benign	15	33838538	33838538	Human	2	name
13489773	CV464931	single nucleotide variant	NM_001036.6(RYR3):c.13365G>A (p.Glu4455=)	Epileptic encephalopathy [RCV000533096]\|not provided [RCV004715267]	benign	15	33844930	33844930	Human	2	name
13504555	CV464944	single nucleotide variant	NM_001036.6(RYR3):c.13569C>T (p.Thr4523=)	Epileptic encephalopathy [RCV000532190]	likely benign	15	33848362	33848362	Human	2	name
13491911	CV464957	single nucleotide variant	NM_001036.6(RYR3):c.14124G>A (p.Lys4708=)	Epileptic encephalopathy [RCV000534560]	likely benign	15	33857896	33857896	Human	2	name
13477212	CV464966	single nucleotide variant	NM_001036.6(RYR3):c.14127C>T (p.Cys4709=)	Epileptic encephalopathy [RCV000549483]\|RYR3-related disorder [RCV003960291]	likely benign	15	33857899	33857899	Human	3	name , alternate_id
13464400	CV464969	single nucleotide variant	NM_001036.6(RYR3):c.14268C>T (p.Phe4756=)	Epileptic encephalopathy [RCV000542162]\|not provided [RCV004715268]	benign	15	33859700	33859700	Human	2	name
13605746	CV528612	single nucleotide variant	NM_001036.6(RYR3):c.1342G>A (p.Ala448Thr)	Epileptic encephalopathy [RCV000637156]\|not specified [RCV004857723]	uncertain significance	15	33580049	33580049	Human	2	name
13605726	CV528614	single nucleotide variant	NM_001036.6(RYR3):c.1945G>C (p.Gly649Arg)	Epileptic encephalopathy [RCV000637136]\|not provided [RCV003403465]	uncertain significance	15	33603145	33603145	Human	2	name
13605662	CV528616	single nucleotide variant	NM_001036.6(RYR3):c.2675G>A (p.Gly892Asp)	Epileptic encephalopathy [RCV000637072]	uncertain significance	15	33628571	33628571	Human	2	name
13605718	CV528628	single nucleotide variant	NM_001036.6(RYR3):c.1400G>A (p.Arg467His)	Epileptic encephalopathy [RCV000637128]	uncertain significance	15	33580107	33580107	Human	2	name
13605897	CV528681	single nucleotide variant	NM_001036.6(RYR3):c.10698G>A (p.Thr3566=)	Epileptic encephalopathy [RCV000637279]\|RYR3-related disorder [RCV003965341]\|not provided [RCV002060736]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	33818676	33818676	Human	3	name , alternate_id
13605772	CV528686	single nucleotide variant	NM_001036.6(RYR3):c.10806A>G (p.Lys3602=)	Epileptic encephalopathy [RCV000637182]	likely benign	15	33820803	33820803	Human	2	name
13605894	CV528709	single nucleotide variant	NM_001036.6(RYR3):c.14319C>T (p.Phe4773=)	Epileptic encephalopathy [RCV000637276]	likely benign	15	33860614	33860614	Human	2	name
13605841	CV528737	single nucleotide variant	NM_001036.6(RYR3):c.11514C>T (p.Asp3838=)	Epileptic encephalopathy [RCV000637252]	likely benign	15	33835018	33835018	Human	2	name
13605798	CV528740	single nucleotide variant	NM_001036.6(RYR3):c.11931T>G (p.Val3977=)	Epileptic encephalopathy [RCV000637191]	likely benign	15	33837911	33837911	Human	2	name
13605824	CV529071	single nucleotide variant	NM_001036.6(RYR3):c.10674C>G (p.Leu3558=)	Epileptic encephalopathy [RCV000637235]	likely benign	15	33818652	33818652	Human	2	name
13605819	CV529080	single nucleotide variant	NM_001036.6(RYR3):c.13635T>C (p.Phe4545=)	Epileptic encephalopathy [RCV001472831]	likely benign	15	33853051	33853051	Human	2	name
13605709	CV529085	single nucleotide variant	NM_001036.6(RYR3):c.1777C>T (p.Arg593Trp)	Epileptic encephalopathy [RCV000637119]	uncertain significance	15	33586105	33586105	Human	2	name
13605701	CV529093	single nucleotide variant	NM_001036.6(RYR3):c.2102G>A (p.Gly701Glu)	Epileptic encephalopathy [RCV000637111]	uncertain significance	15	33603302	33603302	Human	2	name
13605804	CV529096	single nucleotide variant	NM_001036.6(RYR3):c.13938A>G (p.Leu4646=)	Epileptic encephalopathy [RCV000637214]\|RYR3-related disorder [RCV003953129]	benign\|likely benign	15	33854843	33854843	Human	3	name , alternate_id
13605809	CV529204	single nucleotide variant	NM_001036.6(RYR3):c.10959C>T (p.Ile3653=)	Epileptic encephalopathy [RCV000637219]	likely benign	15	33821566	33821566	Human	2	name
13605831	CV529209	single nucleotide variant	NM_001036.6(RYR3):c.11067T>G (p.Ser3689=)	Epileptic encephalopathy [RCV000637243]	likely benign	15	33823067	33823067	Human	2	name
13605890	CV529223	single nucleotide variant	NM_001036.6(RYR3):c.14370A>G (p.Lys4790=)	Epileptic encephalopathy [RCV001521954]	benign	15	33861083	33861083	Human	2	name
13822342	CV566905	single nucleotide variant	NM_001036.6(RYR3):c.1072A>G (p.Ile358Val)	Epileptic encephalopathy [RCV000697175]	uncertain significance	15	33562936	33562936	Human	2	name
13815810	CV566907	single nucleotide variant	NM_001036.6(RYR3):c.1303C>T (p.Pro435Ser)	Epileptic encephalopathy [RCV000705939]	uncertain significance	15	33580010	33580010	Human	2	name
13815550	CV566909	single nucleotide variant	NM_001036.6(RYR3):c.2083G>A (p.Gly695Arg)	Epileptic encephalopathy [RCV000691675]	uncertain significance	15	33603283	33603283	Human	2	name
13822385	CV568647	single nucleotide variant	NM_001036.6(RYR3):c.1463G>T (p.Cys488Phe)	Epileptic encephalopathy [RCV000697234]	uncertain significance	15	33581533	33581533	Human	2	name
13814423	CV568648	single nucleotide variant	NM_001036.6(RYR3):c.1904T>A (p.Leu635Gln)	Epileptic encephalopathy [RCV000690866]	uncertain significance	15	33601534	33601534	Human	2	name
13812129	CV568651	single nucleotide variant	NM_001036.6(RYR3):c.2812G>T (p.Ala938Ser)	Epileptic encephalopathy [RCV000703503]\|not specified [RCV004026630]	uncertain significance	15	33631238	33631238	Human	2	name
13821936	CV569251	single nucleotide variant	NM_001036.6(RYR3):c.1312G>A (p.Glu438Lys)	Epileptic encephalopathy [RCV000696583]	uncertain significance	15	33580019	33580019	Human	2	name
13815722	CV569254	single nucleotide variant	NM_001036.6(RYR3):c.2443C>G (p.Pro815Ala)	Epileptic encephalopathy [RCV000705886]	uncertain significance	15	33623892	33623892	Human	2	name
13811492	CV573152	single nucleotide variant	NM_001036.6(RYR3):c.1994T>C (p.Ile665Thr)	Epileptic encephalopathy [RCV000688786]\|not specified [RCV004659167]	uncertain significance	15	33603194	33603194	Human	2	name
13804449	CV573155	single nucleotide variant	NM_001036.6(RYR3):c.2785A>G (p.Thr929Ala)	Epileptic encephalopathy [RCV000699618]	uncertain significance	15	33631211	33631211	Human	2	name
13808599	CV573183	single nucleotide variant	NM_001036.6(RYR3):c.11124G>T (p.Gly3708=)	Epileptic encephalopathy [RCV000687347]	likely benign\|uncertain significance	15	33825654	33825654	Human	2	name
14729469	CV643019	single nucleotide variant	NM_001036.6(RYR3):c.1067A>G (p.Gln356Arg)	Epileptic encephalopathy [RCV000816966]\|not specified [RCV004028902]	uncertain significance	15	33562931	33562931	Human	2	name
14702587	CV643020	single nucleotide variant	NM_001036.6(RYR3):c.1157A>G (p.His386Arg)	Epileptic encephalopathy [RCV000807025]	uncertain significance	15	33566688	33566688	Human	2	name
14738897	CV643021	single nucleotide variant	NM_001036.6(RYR3):c.1279C>T (p.Arg427Cys)	Epileptic encephalopathy [RCV000804722]	uncertain significance	15	33579986	33579986	Human	2	name
14721974	CV643022	single nucleotide variant	NM_001036.6(RYR3):c.1280G>A (p.Arg427His)	Epileptic encephalopathy [RCV000813710]\|not provided [RCV004693354]	uncertain significance	15	33579987	33579987	Human	2	name
14708078	CV643023	single nucleotide variant	NM_001036.6(RYR3):c.1291C>G (p.Pro431Ala)	Epileptic encephalopathy [RCV000792497]	likely benign\|uncertain significance	15	33579998	33579998	Human	2	name
14724709	CV643024	single nucleotide variant	NM_001036.6(RYR3):c.1392C>G (p.Asn464Lys)	Epileptic encephalopathy [RCV000798501]	uncertain significance	15	33580099	33580099	Human	2	name
14722279	CV643025	single nucleotide variant	NM_001036.6(RYR3):c.1472G>A (p.Arg491His)	Epileptic encephalopathy [RCV000797470]	uncertain significance	15	33581542	33581542	Human	2	name
14731357	CV643026	single nucleotide variant	NM_001036.6(RYR3):c.1585C>T (p.Arg529Cys)	Epileptic encephalopathy [RCV000801379]	uncertain significance	15	33584406	33584406	Human	2	name
14738055	CV643027	single nucleotide variant	NM_001036.6(RYR3):c.1623C>A (p.Asn541Lys)	Epileptic encephalopathy [RCV000804337]	uncertain significance	15	33584444	33584444	Human	2	name
14715526	CV643028	single nucleotide variant	NM_001036.6(RYR3):c.1877G>A (p.Arg626Gln)	Epileptic encephalopathy [RCV000794799]	uncertain significance	15	33601507	33601507	Human	2	name
14726598	CV643029	single nucleotide variant	NM_001036.6(RYR3):c.1900C>T (p.Arg634Ter)	Epileptic encephalopathy [RCV000815696]	uncertain significance	15	33601530	33601530	Human	2	name
14708317	CV643030	single nucleotide variant	NM_001036.6(RYR3):c.2235C>A (p.Cys745Ter)	Epileptic encephalopathy [RCV000809046]	uncertain significance	15	33613253	33613253	Human	2	name
14736302	CV643098	single nucleotide variant	NM_001036.6(RYR3):c.14031G>A (p.Leu4677=)	Epileptic encephalopathy [RCV000819964]	likely benign\|uncertain significance	15	33857803	33857803	Human	2	name
15146609	CV693654	single nucleotide variant	NM_001036.6(RYR3):c.13167C>T (p.Ala4389=)	Epileptic encephalopathy [RCV000878587]	benign	15	33841993	33841993	Human	2	name
15153026	CV703120	single nucleotide variant	NM_001036.6(RYR3):c.1007G>A (p.Arg336Gln)	Epileptic encephalopathy [RCV000945999]	likely benign	15	33562871	33562871	Human	2	name
15192554	CV703122	single nucleotide variant	NM_001036.6(RYR3):c.1840G>A (p.Ala614Thr)	Epileptic encephalopathy [RCV000955106]\|not specified [RCV004800646]	benign\|uncertain significance	15	33601470	33601470	Human	2	name
15104575	CV703134	single nucleotide variant	NM_001036.6(RYR3):c.13207C>T (p.Leu4403=)	Epileptic encephalopathy [RCV000959714]\|not provided [RCV001532253]	likely benign\|uncertain significance	15	33842033	33842033	Human	2	name
15109817	CV714389	single nucleotide variant	NM_001036.6(RYR3):c.2747A>C (p.Lys916Thr)	Epileptic encephalopathy [RCV000960776]	likely benign	15	33630007	33630007	Human	2	name
15142927	CV714398	single nucleotide variant	NM_001036.6(RYR3):c.14163C>T (p.Tyr4721=)	Epileptic encephalopathy [RCV000966577]\|RYR3-related disorder [RCV003936021]	likely benign	15	33859595	33859595	Human	3	name , alternate_id
15188302	CV726012	single nucleotide variant	NM_001036.6(RYR3):c.10743C>G (p.Ser3581=)	Epileptic encephalopathy [RCV000887495]\|not provided [RCV003884786]	likely benign	15	33819792	33819792	Human	2	name
15167952	CV726013	single nucleotide variant	NM_001036.6(RYR3):c.13698C>T (p.Tyr4566=)	Epileptic encephalopathy [RCV001505848]	likely benign	15	33853581	33853581	Human	2	name
15122965	CV739555	single nucleotide variant	NM_001036.6(RYR3):c.12096C>T (p.Ile4032=)	Epileptic encephalopathy [RCV000896329]	likely benign	15	33838076	33838076	Human	2	name
15160230	CV739556	single nucleotide variant	NM_001036.6(RYR3):c.14046T>C (p.Tyr4682=)	not provided [RCV000903102]	likely benign	15	33857818	33857818	Human		name
15158898	CV739557	single nucleotide variant	NM_001036.6(RYR3):c.14097C>T (p.Ser4699=)	Epileptic encephalopathy [RCV000902826]	likely benign	15	33857869	33857869	Human	2	name
15168650	CV739559	single nucleotide variant	NM_001036.6(RYR3):c.14418T>C (p.His4806=)	Epileptic encephalopathy [RCV000904900]	likely benign	15	33861131	33861131	Human	2	name
15137169	CV739560	single nucleotide variant	NM_001036.6(RYR3):c.14511G>A (p.Thr4837=)	Epileptic encephalopathy [RCV000898754]	likely benign	15	33864183	33864183	Human	2	name
15134829	CV739561	single nucleotide variant	NM_001036.6(RYR3):c.14571C>T (p.Ala4857=)	Epileptic encephalopathy [RCV000898356]	likely benign	15	33865184	33865184	Human	2	name
15128281	CV754382	single nucleotide variant	NM_001036.6(RYR3):c.12402G>A (p.Gly4134=)	Epileptic encephalopathy [RCV000919627]	likely benign	15	33838382	33838382	Human	2	name
15098030	CV754383	single nucleotide variant	NM_001036.6(RYR3):c.13380G>A (p.Ala4460=)	Epileptic encephalopathy [RCV000914150]	likely benign	15	33844945	33844945	Human	2	name
15099613	CV754384	single nucleotide variant	NM_001036.6(RYR3):c.13716T>A (p.Ala4572=)	not provided [RCV000914482]	likely benign	15	33853599	33853599	Human		name
15163186	CV754385	single nucleotide variant	NM_001036.6(RYR3):c.14034C>T (p.Ala4678=)	Epileptic encephalopathy [RCV000926066]	likely benign	15	33857806	33857806	Human	2	name
15163463	CV754386	single nucleotide variant	NM_001036.6(RYR3):c.14103C>T (p.Asp4701=)	Epileptic encephalopathy [RCV000926134]\|not provided [RCV004808964]	likely benign	15	33857875	33857875	Human	2	name
15197713	CV770091	single nucleotide variant	NM_001036.6(RYR3):c.10731C>T (p.Tyr3577=)	not provided [RCV000934591]	likely benign	15	33819780	33819780	Human		name
15176175	CV770092	single nucleotide variant	NM_001036.6(RYR3):c.11298C>A (p.Val3766=)	Epileptic encephalopathy [RCV000928858]\|RYR3-related disorder [RCV003903076]	likely benign	15	33827251	33827251	Human	3	name , alternate_id
15193093	CV770093	single nucleotide variant	NM_001036.6(RYR3):c.11695C>T (p.Leu3899=)	Epileptic encephalopathy [RCV000933269]	likely benign	15	33837675	33837675	Human	2	name
15144501	CV770094	single nucleotide variant	NM_001036.6(RYR3):c.12642G>A (p.Val4214=)	Epileptic encephalopathy [RCV001492709]	likely benign	15	33838622	33838622	Human	2	name
15103349	CV770095	single nucleotide variant	NM_001036.6(RYR3):c.13071A>G (p.Lys4357=)	Epileptic encephalopathy [RCV001394050]	likely benign	15	33841897	33841897	Human	2	name
15134000	CV770096	single nucleotide variant	NM_001036.6(RYR3):c.13437C>T (p.Ala4479=)	Epileptic encephalopathy [RCV001440412]	likely benign	15	33845002	33845002	Human	2	name
15116386	CV770097	single nucleotide variant	NM_001036.6(RYR3):c.13801C>T (p.Leu4601=)	Epileptic encephalopathy [RCV001406969]	likely benign	15	33854390	33854390	Human	2	name
15115660	CV770098	single nucleotide variant	NM_001036.6(RYR3):c.13884T>C (p.Tyr4628=)	Epileptic encephalopathy [RCV001429670]	likely benign	15	33854789	33854789	Human	2	name
15125612	CV784886	single nucleotide variant	NM_001036.6(RYR3):c.12810G>T (p.Gly4270=)	Epileptic encephalopathy [RCV001483457]	likely benign	15	33838790	33838790	Human	2	name
21074559	CV797111	single nucleotide variant	NM_001036.6(RYR3):c.1539G>A (p.Trp513Ter)	not provided [RCV000995287]	uncertain significance	15	33581609	33581609	Human		name
25322660	CV805051	single nucleotide variant	NM_001036.6(RYR3):c.2000A>G (p.Asp667Gly)	Congenital myopathy 20 [RCV003160165]\|Flexion contracture [RCV001007853]	pathogenic\|uncertain significance	15	33603200	33603200	Human	3	name
26896762	CV842141	single nucleotide variant	NM_001036.6(RYR3):c.1079G>A (p.Ser360Asn)	Epileptic encephalopathy [RCV001064869]	uncertain significance	15	33562943	33562943	Human	2	name
26920155	CV842142	single nucleotide variant	NM_001036.6(RYR3):c.1111G>A (p.Ala371Thr)	Epileptic encephalopathy [RCV001047064]	uncertain significance	15	33562975	33562975	Human	2	name
26905296	CV842143	single nucleotide variant	NM_001036.6(RYR3):c.1234C>T (p.Arg412Trp)	Epileptic encephalopathy [RCV001071797]	uncertain significance	15	33566765	33566765	Human	2	name
26913083	CV842144	single nucleotide variant	NM_001036.6(RYR3):c.1413C>G (p.Asn471Lys)	Epileptic encephalopathy [RCV001035155]\|not specified [RCV004030947]	uncertain significance	15	33580120	33580120	Human	2	name
26884752	CV842145	single nucleotide variant	NM_001036.6(RYR3):c.2317G>A (p.Gly773Arg)	Epileptic encephalopathy [RCV001052480]	uncertain significance	15	33613335	33613335	Human	2	name
26920295	CV842146	single nucleotide variant	NM_001036.6(RYR3):c.2353G>A (p.Val785Ile)	Epileptic encephalopathy [RCV001047300]	uncertain significance	15	33613371	33613371	Human	2	name
26921946	CV842147	single nucleotide variant	NM_001036.6(RYR3):c.2363G>A (p.Arg788His)	Epileptic encephalopathy [RCV001051102]	uncertain significance	15	33623812	33623812	Human	2	name
26917963	CV842148	single nucleotide variant	NM_001036.6(RYR3):c.2420C>T (p.Ala807Val)	Epileptic encephalopathy [RCV001042549]\|not specified [RCV005268864]	uncertain significance	15	33623869	33623869	Human	2	name
26921490	CV842149	single nucleotide variant	NM_001036.6(RYR3):c.2470G>C (p.Val824Leu)	Epileptic encephalopathy [RCV001050026]	uncertain significance	15	33623919	33623919	Human	2	name
26916129	CV842150	single nucleotide variant	NM_001036.6(RYR3):c.2593C>G (p.Leu865Val)	Epileptic encephalopathy [RCV001039950]	uncertain significance	15	33628489	33628489	Human	2	name
26891967	CV842151	single nucleotide variant	NM_001036.6(RYR3):c.2621A>T (p.Glu874Val)	Epileptic encephalopathy [RCV001061154]	uncertain significance	15	33628517	33628517	Human	2	name
26916103	CV842152	single nucleotide variant	NM_001036.6(RYR3):c.2654T>C (p.Ile885Thr)	Epileptic encephalopathy [RCV001039898]	uncertain significance	15	33628550	33628550	Human	2	name
26891038	CV842153	single nucleotide variant	NM_001036.6(RYR3):c.2705A>G (p.His902Arg)	Epileptic encephalopathy [RCV001060055]	uncertain significance	15	33629965	33629965	Human	2	name
26905477	CV842154	single nucleotide variant	NM_001036.6(RYR3):c.2801G>A (p.Gly934Glu)	Epileptic encephalopathy [RCV001071968]	uncertain significance	15	33631227	33631227	Human	2	name
26891231	CV842155	single nucleotide variant	NM_001036.6(RYR3):c.2872A>G (p.Met958Val)	Epileptic encephalopathy [RCV001060239]\|not specified [RCV005268892]	uncertain significance	15	33632953	33632953	Human	2	name
8635403	CV90624	single nucleotide variant	NM_001036.6(RYR3):c.2168G>A (p.Arg723Gln)	Epileptic encephalopathy [RCV001215388]	uncertain significance\|not provided	15	33613186	33613186	Human	2	name
40903991	CV918088	single nucleotide variant	NM_001036.6(RYR3):c.2567C>G (p.Thr856Ser)	Premature ovarian failure [RCV001270226]	uncertain significance	15	33624016	33624016	Human	2	name
38476417	CV927270	single nucleotide variant	NM_001036.6(RYR3):c.1650C>G (p.Asp550Glu)	Epileptic encephalopathy [RCV001215631]	uncertain significance	15	33584471	33584471	Human	2	name
38480249	CV927271	single nucleotide variant	NM_001036.6(RYR3):c.1901G>A (p.Arg634Gln)	Epileptic encephalopathy [RCV001217455]	uncertain significance	15	33601531	33601531	Human	2	name
38477001	CV927272	single nucleotide variant	NM_001036.6(RYR3):c.2074C>T (p.Pro692Ser)	Epileptic encephalopathy [RCV001215931]	uncertain significance	15	33603274	33603274	Human	2	name
38485413	CV927273	single nucleotide variant	NM_001036.6(RYR3):c.2500A>C (p.Ile834Leu)	Epileptic encephalopathy [RCV001219861]	uncertain significance	15	33623949	33623949	Human	2	name
38487855	CV927274	single nucleotide variant	NM_001036.6(RYR3):c.2756A>T (p.Asn919Ile)	Epileptic encephalopathy [RCV001220919]	uncertain significance	15	33630016	33630016	Human	2	name
38483872	CV927297	single nucleotide variant	NM_001036.6(RYR3):c.14058G>A (p.Val4686=)	Epileptic encephalopathy [RCV001219153]	uncertain significance	15	33857830	33857830	Human	2	name
38484293	CV936860	single nucleotide variant	NM_001036.6(RYR3):c.1204C>T (p.Arg402Cys)	Epileptic encephalopathy [RCV001207988]	uncertain significance	15	33566735	33566735	Human	2	name
38479188	CV936861	single nucleotide variant	NM_001036.6(RYR3):c.1987G>A (p.Glu663Lys)	Epileptic encephalopathy [RCV001205872]	uncertain significance	15	33603187	33603187	Human	2	name
38464988	CV936862	single nucleotide variant	NM_001036.6(RYR3):c.2677A>G (p.Lys893Glu)	Epileptic encephalopathy [RCV001212574]	uncertain significance	15	33628573	33628573	Human	2	name
38484006	CV936863	single nucleotide variant	NM_001036.6(RYR3):c.2846A>G (p.Lys949Arg)	Epileptic encephalopathy [RCV001207866]\|not specified [RCV004033709]	uncertain significance	15	33631272	33631272	Human	2	name
38479943	CV936864	single nucleotide variant	NM_001036.6(RYR3):c.2884G>A (p.Gly962Ser)	Epileptic encephalopathy [RCV001206191]	uncertain significance	15	33632965	33632965	Human	2	name
38485394	CV948812	single nucleotide variant	NM_001036.6(RYR3):c.1321C>A (p.Gln441Lys)	Epileptic encephalopathy [RCV001236739]	uncertain significance	15	33580028	33580028	Human	2	name
38478782	CV948813	single nucleotide variant	NM_001036.6(RYR3):c.1884C>A (p.Asn628Lys)	Epileptic encephalopathy [RCV001234041]	uncertain significance	15	33601514	33601514	Human	2	name
38497655	CV948814	single nucleotide variant	NM_001036.6(RYR3):c.2646G>T (p.Met882Ile)	Epileptic encephalopathy [RCV001227224]	uncertain significance	15	33628542	33628542	Human	2	name
126738193	CV996171	single nucleotide variant	NM_001036.6(RYR3):c.1096T>A (p.Tyr366Asn)	Epileptic encephalopathy [RCV001304968]	uncertain significance	15	33562960	33562960	Human	2	name
126760327	CV996172	single nucleotide variant	NM_001036.6(RYR3):c.1289C>T (p.Ala430Val)	Epileptic encephalopathy [RCV001299761]	uncertain significance	15	33579996	33579996	Human	2	name
126758084	CV996173	single nucleotide variant	NM_001036.6(RYR3):c.1606G>A (p.Ala536Thr)	Epileptic encephalopathy [RCV001308612]\|not specified [RCV004034173]	uncertain significance	15	33584427	33584427	Human	2	name
126735961	CV996174	single nucleotide variant	NM_001036.6(RYR3):c.1688A>C (p.His563Pro)	Epileptic encephalopathy [RCV001304675]\|RYR3-related disorder [RCV003405522]	uncertain significance	15	33586016	33586016	Human	3	name , alternate_id
126755470	CV996175	single nucleotide variant	NM_001036.6(RYR3):c.1823A>G (p.Asn608Ser)	Epileptic encephalopathy [RCV001307867]	uncertain significance	15	33601453	33601453	Human	2	name
126766644	CV996176	single nucleotide variant	NM_001036.6(RYR3):c.2165G>C (p.Gly722Ala)	Epileptic encephalopathy [RCV001301967]	uncertain significance	15	33613183	33613183	Human	2	name
126743072	CV996177	single nucleotide variant	NM_001036.6(RYR3):c.2753A>G (p.Tyr918Cys)	Epileptic encephalopathy [RCV001296135]	uncertain significance	15	33630013	33630013	Human	2	name
8643621	CV102886	single nucleotide variant	NM_001036.6(RYR3):c.4529T>C (p.Val1510Ala)	not provided [RCV000083247]	not provided	15	33660330	33660330	Human		name
156257953	CV2277698	single nucleotide variant	NM_001036.6(RYR3):c.3346G>A (p.Ala1116Thr)	not specified [RCV004147145]	uncertain significance	15	33635784	33635784	Human		name
401742806	CV2673878	single nucleotide variant	NM_001036.6(RYR3):c.5614G>A (p.Glu1872Lys)	not specified [RCV004293256]	uncertain significance	15	33663732	33663732	Human		name
401779471	CV2676580	single nucleotide variant	NM_001036.6(RYR3):c.5112G>C (p.Gln1704His)	not specified [RCV004288764]	uncertain significance	15	33662642	33662642	Human		name
401750254	CV2701106	single nucleotide variant	NM_001036.6(RYR3):c.6732G>T (p.Met2244Ile)	not specified [RCV004309701]	uncertain significance	15	33722827	33722827	Human		name
401759939	CV2701795	single nucleotide variant	NM_001036.6(RYR3):c.3152T>C (p.Ile1051Thr)	not specified [RCV004314188]	uncertain significance	15	33634710	33634710	Human		name
401738969	CV2708261	single nucleotide variant	NM_001036.6(RYR3):c.4931C>T (p.Pro1644Leu)	not specified [RCV004311605]	uncertain significance	15	33662461	33662461	Human		name
401771846	CV2711939	single nucleotide variant	NM_001036.6(RYR3):c.9299T>C (p.Met3100Thr)	not specified [RCV004309556]	uncertain significance	15	33785692	33785692	Human		name
401766763	CV2721308	single nucleotide variant	NM_001036.6(RYR3):c.4724G>A (p.Arg1575His)	not specified [RCV004322070]	uncertain significance	15	33662254	33662254	Human		name
401868069	CV2767142	single nucleotide variant	NM_001036.6(RYR3):c.9554G>A (p.Gly3185Asp)	not specified [RCV004347540]	uncertain significance	15	33785947	33785947	Human		name
401877991	CV2786925	single nucleotide variant	NM_001036.6(RYR3):c.3352G>A (p.Asp1118Asn)	not specified [RCV004366066]	uncertain significance	15	33635790	33635790	Human		name
401871993	CV2792950	single nucleotide variant	NM_001036.6(RYR3):c.3590A>G (p.Gln1197Arg)	not specified [RCV004360299]	uncertain significance	15	33644344	33644344	Human		name
405701831	CV3310127	single nucleotide variant	NM_001036.6(RYR3):c.3052C>T (p.Arg1018Cys)	not specified [RCV004447205]	uncertain significance	15	33634610	33634610	Human		name
405701852	CV3310130	single nucleotide variant	NM_001036.6(RYR3):c.4130G>A (p.Arg1377Gln)	not specified [RCV004447208]	uncertain significance	15	33649223	33649223	Human		name
405701858	CV3310131	single nucleotide variant	NM_001036.6(RYR3):c.4552C>T (p.Arg1518Cys)	not specified [RCV004447209]	uncertain significance	15	33660353	33660353	Human		name
405701865	CV3310132	single nucleotide variant	NM_001036.6(RYR3):c.5147G>A (p.Gly1716Glu)	not specified [RCV004447210]	uncertain significance	15	33662677	33662677	Human		name
405701871	CV3310133	single nucleotide variant	NM_001036.6(RYR3):c.5258C>G (p.Ser1753Cys)	not specified [RCV004447211]	uncertain significance	15	33662788	33662788	Human		name
405701879	CV3310134	single nucleotide variant	NM_001036.6(RYR3):c.5260G>T (p.Val1754Leu)	not specified [RCV004447212]	uncertain significance	15	33662790	33662790	Human		name
405701886	CV3310135	single nucleotide variant	NM_001036.6(RYR3):c.5438A>G (p.Tyr1813Cys)	not specified [RCV004447213]	uncertain significance	15	33663556	33663556	Human		name
405701900	CV3310137	single nucleotide variant	NM_001036.6(RYR3):c.5759A>C (p.Asp1920Ala)	not specified [RCV004447215]	uncertain significance	15	33670455	33670455	Human		name
405701906	CV3310138	single nucleotide variant	NM_001036.6(RYR3):c.6474C>A (p.Asp2158Glu)	not specified [RCV004447216]	uncertain significance	15	33701071	33701071	Human		name
405701911	CV3310139	single nucleotide variant	NM_001036.6(RYR3):c.6707G>C (p.Gly2236Ala)	not specified [RCV004447217]	uncertain significance	15	33722802	33722802	Human		name
405701914	CV3310140	single nucleotide variant	NM_001036.6(RYR3):c.7195C>A (p.Leu2399Ile)	not specified [RCV004447218]	uncertain significance	15	33729018	33729018	Human		name
405701921	CV3310141	single nucleotide variant	NM_001036.6(RYR3):c.7271T>A (p.Leu2424His)	not specified [RCV004447219]	uncertain significance	15	33731541	33731541	Human		name
405701928	CV3310142	single nucleotide variant	NM_001036.6(RYR3):c.8183T>C (p.Leu2728Pro)	not specified [RCV004447220]	uncertain significance	15	33748514	33748514	Human		name
405701935	CV3310143	single nucleotide variant	NM_001036.6(RYR3):c.9178G>T (p.Ala3060Ser)	not specified [RCV004447221]	uncertain significance	15	33780251	33780251	Human		name
405701943	CV3310144	single nucleotide variant	NM_001036.6(RYR3):c.9304C>G (p.Pro3102Ala)	not specified [RCV004447222]	uncertain significance	15	33785697	33785697	Human		name
405853029	CV3393460	single nucleotide variant	NM_001036.6(RYR3):c.4261A>G (p.Met1421Val)	not provided [RCV004546190]	uncertain significance	15	33652836	33652836	Human		name
407468872	CV3473310	single nucleotide variant	NM_001036.6(RYR3):c.6160T>G (p.Tyr2054Asp)	not specified [RCV004661275]	uncertain significance	15	33697907	33697907	Human		name
407468878	CV3473313	single nucleotide variant	NM_001036.6(RYR3):c.9621G>C (p.Arg3207Ser)	not specified [RCV004661277]	uncertain significance	15	33788249	33788249	Human		name
407468882	CV3473314	single nucleotide variant	NM_001036.6(RYR3):c.8980A>G (p.Thr2994Ala)	not specified [RCV004661278]	uncertain significance	15	33772083	33772083	Human		name
407468888	CV3473316	single nucleotide variant	NM_001036.6(RYR3):c.6026C>G (p.Thr2009Ser)	not specified [RCV004661280]	uncertain significance	15	33696383	33696383	Human		name
407468893	CV3473319	single nucleotide variant	NM_001036.6(RYR3):c.4839C>G (p.Ile1613Met)	not specified [RCV004661282]	uncertain significance	15	33662369	33662369	Human		name
407468896	CV3473320	single nucleotide variant	NM_001036.6(RYR3):c.4204T>C (p.Ser1402Pro)	not specified [RCV004661283]	uncertain significance	15	33652779	33652779	Human		name
407468898	CV3473321	single nucleotide variant	NM_001036.6(RYR3):c.9540C>G (p.Ile3180Met)	not specified [RCV004661284]	uncertain significance	15	33785933	33785933	Human		name
407514350	CV3473330	single nucleotide variant	NM_001036.6(RYR3):c.9766G>A (p.Ala3256Thr)	not specified [RCV004674412]	uncertain significance	15	33788394	33788394	Human		name
407506857	CV3496199	single nucleotide variant	NM_001036.6(RYR3):c.5512C>T (p.Gln1838Ter)	not provided [RCV004698040]	uncertain significance	15	33663630	33663630	Human		name
597655793	CV3552214	single nucleotide variant	NM_001036.6(RYR3):c.4298C>G (p.Thr1433Ser)	Congenital myopathy 20 [RCV004821072]	uncertain significance	15	33652873	33652873	Human	1	name
597734306	CV3597814	single nucleotide variant	NM_001036.6(RYR3):c.4726G>A (p.Val1576Met)	not specified [RCV004863456]	uncertain significance	15	33662256	33662256	Human		name
597734313	CV3597815	single nucleotide variant	NM_001036.6(RYR3):c.3053G>A (p.Arg1018His)	not specified [RCV004863457]	uncertain significance	15	33634611	33634611	Human		name
597734320	CV3597816	single nucleotide variant	NM_001036.6(RYR3):c.7571G>T (p.Trp2524Leu)	not specified [RCV004863458]	uncertain significance	15	33738505	33738505	Human		name
597734326	CV3597817	single nucleotide variant	NM_001036.6(RYR3):c.7572G>C (p.Trp2524Cys)	not specified [RCV004863459]	uncertain significance	15	33738506	33738506	Human		name
597734331	CV3597818	single nucleotide variant	NM_001036.6(RYR3):c.3187G>T (p.Val1063Leu)	not specified [RCV004863460]	uncertain significance	15	33635625	33635625	Human		name
597734355	CV3597822	single nucleotide variant	NM_001036.6(RYR3):c.9259G>A (p.Glu3087Lys)	not specified [RCV004863464]	uncertain significance	15	33780332	33780332	Human		name
597734360	CV3597823	single nucleotide variant	NM_001036.6(RYR3):c.4294G>A (p.Gly1432Ser)	not specified [RCV004863465]	uncertain significance	15	33652869	33652869	Human		name
597734365	CV3597824	single nucleotide variant	NM_001036.6(RYR3):c.4753G>A (p.Asp1585Asn)	not specified [RCV004863466]	uncertain significance	15	33662283	33662283	Human		name
597734387	CV3597828	single nucleotide variant	NM_001036.6(RYR3):c.4763A>T (p.Gln1588Leu)	not specified [RCV004863470]	uncertain significance	15	33662293	33662293	Human		name
597734392	CV3597829	single nucleotide variant	NM_001036.6(RYR3):c.3994A>G (p.Ile1332Val)	not specified [RCV004863471]	uncertain significance	15	33649087	33649087	Human		name
597734419	CV3597834	single nucleotide variant	NM_001036.6(RYR3):c.5773G>A (p.Gly1925Arg)	not specified [RCV004863476]	uncertain significance	15	33670469	33670469	Human		name
597734424	CV3597835	single nucleotide variant	NM_001036.6(RYR3):c.5138C>A (p.Pro1713His)	not specified [RCV004863477]	uncertain significance	15	33662668	33662668	Human		name
597734444	CV3597839	single nucleotide variant	NM_001036.6(RYR3):c.4928T>G (p.Phe1643Cys)	not specified [RCV004863481]	uncertain significance	15	33662458	33662458	Human		name
597734451	CV3597840	single nucleotide variant	NM_001036.6(RYR3):c.3190G>C (p.Glu1064Gln)	not specified [RCV004863482]	uncertain significance	15	33635628	33635628	Human		name
597734467	CV3597843	single nucleotide variant	NM_001036.6(RYR3):c.5250T>G (p.Ile1750Met)	not specified [RCV004863485]	uncertain significance	15	33662780	33662780	Human		name
597734484	CV3597846	single nucleotide variant	NM_001036.6(RYR3):c.8546A>G (p.Lys2849Arg)	not specified [RCV004863488]	uncertain significance	15	33756336	33756336	Human		name
597734494	CV3597848	single nucleotide variant	NM_001036.6(RYR3):c.9036G>C (p.Gln3012His)	not specified [RCV004863490]	uncertain significance	15	33772139	33772139	Human		name
597734505	CV3597850	single nucleotide variant	NM_001036.6(RYR3):c.9891A>C (p.Glu3297Asp)	not specified [RCV004863492]	uncertain significance	15	33800830	33800830	Human		name
597734511	CV3597851	single nucleotide variant	NM_001036.6(RYR3):c.4085A>C (p.Asn1362Thr)	not specified [RCV004863493]	uncertain significance	15	33649178	33649178	Human		name
597734520	CV3597852	single nucleotide variant	NM_001036.6(RYR3):c.5770A>G (p.Thr1924Ala)	not specified [RCV004863494]	uncertain significance	15	33670466	33670466	Human		name
597734526	CV3597853	single nucleotide variant	NM_001036.6(RYR3):c.8821G>C (p.Val2941Leu)	not specified [RCV004863495]	uncertain significance	15	33771924	33771924	Human		name
597734541	CV3597856	single nucleotide variant	NM_001036.6(RYR3):c.7364G>A (p.Gly2455Glu)	not specified [RCV004863498]	uncertain significance	15	33731634	33731634	Human		name
597734568	CV3597861	single nucleotide variant	NM_001036.6(RYR3):c.3308G>T (p.Trp1103Leu)	not specified [RCV004863503]	uncertain significance	15	33635746	33635746	Human		name
597734574	CV3597862	single nucleotide variant	NM_001036.6(RYR3):c.7626C>G (p.Phe2542Leu)	not specified [RCV004863504]	uncertain significance	15	33738560	33738560	Human		name
597734580	CV3597863	single nucleotide variant	NM_001036.6(RYR3):c.3182C>T (p.Ser1061Leu)	not specified [RCV004863505]	uncertain significance	15	33635620	33635620	Human		name
597734585	CV3597864	single nucleotide variant	NM_001036.6(RYR3):c.4262T>C (p.Met1421Thr)	not specified [RCV004863506]	uncertain significance	15	33652837	33652837	Human		name
597734590	CV3597865	single nucleotide variant	NM_001036.6(RYR3):c.7258G>A (p.Ala2420Thr)	not specified [RCV004863507]	uncertain significance	15	33731528	33731528	Human		name
597734607	CV3597868	single nucleotide variant	NM_001036.6(RYR3):c.5417A>G (p.Gln1806Arg)	not specified [RCV004863510]	uncertain significance	15	33662947	33662947	Human		name
597734612	CV3597869	single nucleotide variant	NM_001036.6(RYR3):c.3584T>C (p.Leu1195Pro)	not specified [RCV004863511]	uncertain significance	15	33644338	33644338	Human		name
597734630	CV3597872	single nucleotide variant	NM_001036.6(RYR3):c.8731G>C (p.Val2911Leu)	not specified [RCV004863514]	uncertain significance	15	33768683	33768683	Human		name
598127065	CV3887945	single nucleotide variant	NM_001036.6(RYR3):c.9646A>T (p.Ile3216Phe)	not provided [RCV005242631]	uncertain significance	15	33788274	33788274	Human		name
598234448	CV3910188	single nucleotide variant	NM_001036.6(RYR3):c.7525A>G (p.Asn2509Asp)	not specified [RCV005275052]	uncertain significance	15	33738459	33738459	Human		name
598234455	CV3910189	single nucleotide variant	NM_001036.6(RYR3):c.7366C>T (p.Arg2456Cys)	not specified [RCV005275053]	uncertain significance	15	33731636	33731636	Human		name
598234463	CV3910190	single nucleotide variant	NM_001036.6(RYR3):c.4612G>C (p.Glu1538Gln)	not specified [RCV005275054]	uncertain significance	15	33660413	33660413	Human		name
598207365	CV3910197	single nucleotide variant	NM_001036.6(RYR3):c.4336G>T (p.Ala1446Ser)	not specified [RCV005270032]	uncertain significance	15	33659747	33659747	Human		name
598207380	CV3910199	single nucleotide variant	NM_001036.6(RYR3):c.8715C>G (p.Cys2905Trp)	not specified [RCV005270034]	uncertain significance	15	33768667	33768667	Human		name
598207386	CV3910200	single nucleotide variant	NM_001036.6(RYR3):c.9314C>A (p.Pro3105His)	not specified [RCV005270035]	uncertain significance	15	33785707	33785707	Human		name
598207397	CV3910202	single nucleotide variant	NM_001036.6(RYR3):c.8096G>A (p.Arg2699Gln)	not specified [RCV005270037]	uncertain significance	15	33748220	33748220	Human		name
598207413	CV3910204	single nucleotide variant	NM_001036.6(RYR3):c.3406G>A (p.Gly1136Arg)	not specified [RCV005270039]	uncertain significance	15	33636400	33636400	Human		name
598207462	CV3910211	single nucleotide variant	NM_001036.6(RYR3):c.9994A>C (p.Lys3332Gln)	not specified [RCV005270046]	uncertain significance	15	33801944	33801944	Human		name
598207480	CV3910214	single nucleotide variant	NM_001036.6(RYR3):c.6908T>C (p.Met2303Thr)	not specified [RCV005270049]	uncertain significance	15	33724172	33724172	Human		name
616939946	CV4014333	single nucleotide variant	NM_001036.6(RYR3):c.3787A>G (p.Met1263Val)	not provided [RCV005413827]	uncertain significance	15	33646372	33646372	Human		name
26895978	CV842164	single nucleotide variant	NM_001036.6(RYR3):c.4474G>A (p.Val1492Ile)	Epileptic encephalopathy [RCV001064367]\|not specified [RCV004587034]	uncertain significance	15	33660275	33660275	Human	2	name
26897864	CV842185	single nucleotide variant	NM_001036.6(RYR3):c.6799G>A (p.Val2267Ile)	Epileptic encephalopathy [RCV001066147]\|not provided [RCV003483772]	uncertain significance\|not provided	15	33722894	33722894	Human	2	name
26920586	CV842192	single nucleotide variant	NM_001036.6(RYR3):c.7802A>G (p.Lys2601Arg)	Epileptic encephalopathy [RCV001048024]\|not specified [RCV003479271]	uncertain significance	15	33739977	33739977	Human	2	name
26919819	CV842197	single nucleotide variant	NM_001036.6(RYR3):c.8442G>T (p.Lys2814Asn)	Epileptic encephalopathy [RCV001046442]	uncertain significance	15	33755107	33755107	Human	2	name
26897491	CV842199	single nucleotide variant	NM_001036.6(RYR3):c.8506G>C (p.Ala2836Pro)	Epileptic encephalopathy [RCV001065802]	uncertain significance	15	33755171	33755171	Human	2	name
26897456	CV842205	single nucleotide variant	NM_001036.6(RYR3):c.9635G>A (p.Arg3212Lys)	Epileptic encephalopathy [RCV001065759]	uncertain significance	15	33788263	33788263	Human	2	name
40903992	CV918089	single nucleotide variant	NM_001036.6(RYR3):c.6604G>A (p.Ala2202Thr)	Premature ovarian failure [RCV001270228]	uncertain significance	15	33707039	33707039	Human	2	name
38493096	CV927277	single nucleotide variant	NM_001036.6(RYR3):c.6045C>G (p.Ile2015Met)	Epileptic encephalopathy [RCV001224038]	uncertain significance	15	33696402	33696402	Human	2	name
38487965	CV927279	single nucleotide variant	NM_001036.6(RYR3):c.8731G>A (p.Val2911Ile)	Epileptic encephalopathy [RCV001220963]	uncertain significance	15	33768683	33768683	Human	2	name
38494306	CV927284	single nucleotide variant	NM_001036.6(RYR3):c.9442C>T (p.Arg3148Trp)	Epileptic encephalopathy [RCV001224877]\|not provided [RCV004697078]	uncertain significance	15	33785835	33785835	Human	2	name
38488203	CV936866	single nucleotide variant	NM_001036.6(RYR3):c.3719G>A (p.Arg1240His)	Epileptic encephalopathy [RCV001209640]	uncertain significance	15	33644473	33644473	Human	2	name
38460827	CV936871	single nucleotide variant	NM_001036.6(RYR3):c.4640A>C (p.Glu1547Ala)	Epileptic encephalopathy [RCV001211905]\|not specified [RCV004033840]	uncertain significance	15	33662170	33662170	Human	2	name
38489789	CV936881	single nucleotide variant	NM_001036.6(RYR3):c.8773A>G (p.Met2925Val)	Epileptic encephalopathy [RCV001210358]\|not specified [RCV004659392]	uncertain significance	15	33769129	33769129	Human	2	name
38499050	CV948824	single nucleotide variant	NM_001036.6(RYR3):c.5398C>A (p.Pro1800Thr)	Epileptic encephalopathy [RCV001228137]	uncertain significance	15	33662928	33662928	Human	2	name
38496314	CV948826	single nucleotide variant	NM_001036.6(RYR3):c.5947T>G (p.Phe1983Val)	Epileptic encephalopathy [RCV001226308]	uncertain significance	15	33696304	33696304	Human	2	name
38490389	CV948827	single nucleotide variant	NM_001036.6(RYR3):c.6064G>A (p.Gly2022Ser)	Epileptic encephalopathy [RCV001238808]	uncertain significance	15	33696421	33696421	Human	2	name
38489655	CV948828	single nucleotide variant	NM_001036.6(RYR3):c.7152G>C (p.Leu2384Phe)	Epileptic encephalopathy [RCV001238506]	uncertain significance	15	33728975	33728975	Human	2	name
38481806	CV948829	single nucleotide variant	NM_001036.6(RYR3):c.7411C>T (p.Leu2471Phe)	Epileptic encephalopathy [RCV001235276]	uncertain significance	15	33731681	33731681	Human	2	name
38496554	CV948832	single nucleotide variant	NM_001036.6(RYR3):c.7781C>T (p.Ala2594Val)	Epileptic encephalopathy [RCV001226468]\|not specified [RCV004857768]	uncertain significance	15	33739956	33739956	Human	2	name
38499623	CV957384	single nucleotide variant	NM_001036.6(RYR3):c.3755C>T (p.Pro1252Leu)	Epileptic encephalopathy [RCV001244871]	uncertain significance	15	33644509	33644509	Human	2	name
38490513	CV957385	single nucleotide variant	NM_001036.6(RYR3):c.4509G>A (p.Met1503Ile)	Epileptic encephalopathy [RCV001238869]\|not specified [RCV004034588]	uncertain significance	15	33660310	33660310	Human	2	name
38495893	CV957386	single nucleotide variant	NM_001036.6(RYR3):c.5132G>A (p.Arg1711Gln)	Epileptic encephalopathy [RCV001242218]	uncertain significance	15	33662662	33662662	Human	2	name
38499820	CV957389	single nucleotide variant	NM_001036.6(RYR3):c.6671G>A (p.Arg2224His)	Epileptic encephalopathy [RCV001245131]	uncertain significance	15	33722766	33722766	Human	2	name
39456466	CV965540	single nucleotide variant	NM_001036.6(RYR3):c.4593G>A (p.Met1531Ile)	RYR3-related Epileptic encephalopathy [RCV004799340]\|not provided [RCV004692357]\|not specified [RCV004035346]	uncertain significance	15	33660394	33660394	Human	1	name
40888441	CV971461	single nucleotide variant	NM_001036.6(RYR3):c.5465G>A (p.Arg1822Gln)	not provided [RCV004799539]\|not specified [RCV004035413]	uncertain significance	15	33663583	33663583	Human		name
40887250	CV973942	single nucleotide variant	NM_001036.6(RYR3):c.3778G>A (p.Asp1260Asn)	Inborn genetic diseases [RCV001266737]	uncertain significance	15	33646363	33646363	Human	1	name
40887764	CV973943	single nucleotide variant	NM_001036.6(RYR3):c.9793T>A (p.Phe3265Ile)	Inborn genetic diseases [RCV001267356]	uncertain significance	15	33788421	33788421	Human	1	name
41407125	CV980723	single nucleotide variant	NM_001036.6(RYR3):c.7855A>G (p.Thr2619Ala)	Congenital myopathy 20 [RCV004799638]\|Epileptic encephalopathy [RCV001367490]	uncertain significance	15	33742400	33742400	Human	3	name
401933317	CV2797617	single nucleotide variant	NM_001036.6(RYR3):c.10304T>A (p.Val3435Asp)	RYR3-related disorder [RCV003392789]	uncertain significance	15	33812909	33812909	Human		trait , alternate_id
401905513	CV2798004	single nucleotide variant	NM_001036.6(RYR3):c.14478G>A (p.Met4826Ile)	RYR3-related disorder [RCV003420858]	uncertain significance	15	33864150	33864150	Human		trait , alternate_id
401933534	CV2800368	single nucleotide variant	NM_001036.6(RYR3):c.4490C>A (p.Pro1497His)	RYR3-related disorder [RCV003410380]	uncertain significance	15	33660291	33660291	Human		trait , alternate_id
405274995	CV3204582	single nucleotide variant	NM_001036.6(RYR3):c.6775C>T (p.Pro2259Ser)	RYR3-related disorder [RCV003951997]	uncertain significance	15	33722870	33722870	Human		trait , alternate_id
405262526	CV3213003	single nucleotide variant	NM_001036.6(RYR3):c.4744A>G (p.Ser1582Gly)	RYR3-related disorder [RCV003944781]	uncertain significance	15	33662274	33662274	Human		trait , alternate_id
13476940	CV464627	single nucleotide variant	NM_001036.6(RYR3):c.7812C>G (p.Asn2604Lys)	Epileptic encephalopathy [RCV001083494]\|RYR3-related disorder [RCV003915531]\|not provided [RCV000845095]	likely benign\|not provided	15	33739987	33739987	Human	3	alternate_id
13487739	CV464646	single nucleotide variant	NM_001036.6(RYR3):c.9254C>G (p.Pro3085Arg)	Epileptic encephalopathy [RCV000531976]\|RYR3-related disorder [RCV003915532]\|not provided [RCV002060308]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	33780327	33780327	Human	3	alternate_id
13464556	CV464866	single nucleotide variant	NM_001036.6(RYR3):c.6617A>C (p.Asn2206Thr)	Epileptic encephalopathy [RCV000542273]\|RYR3-related disorder [RCV003935437]\|not provided [RCV001824819]	benign\|likely benign\|not provided	15	33707052	33707052	Human	3	alternate_id
13482428	CV464885	single nucleotide variant	NM_001036.6(RYR3):c.8117G>T (p.Ser2706Ile)	Epileptic encephalopathy [RCV000529400]\|RYR3-related disorder [RCV003960293]	benign	15	33748241	33748241	Human	3	alternate_id
13495570	CV464894	single nucleotide variant	NM_001036.6(RYR3):c.8542G>A (p.Glu2848Lys)	Epileptic encephalopathy [RCV000559724]\|RYR3-related disorder [RCV003935438]	likely benign	15	33756332	33756332	Human	3	alternate_id
13496701	CV464895	single nucleotide variant	NM_001036.6(RYR3):c.8555G>A (p.Arg2852His)	Epileptic encephalopathy [RCV000538031]\|RYR3-related disorder [RCV003942776]\|not provided [RCV003222022]	benign\|likely benign	15	33756345	33756345	Human	3	alternate_id
13485683	CV464896	single nucleotide variant	NM_001036.6(RYR3):c.9143G>T (p.Arg3048Leu)	Epileptic encephalopathy [RCV000553337]\|RYR3-related disorder [RCV003925624]\|not specified [RCV004586771]	benign\|likely benign	15	33780216	33780216	Human	3	alternate_id
13492420	CV464919	single nucleotide variant	NM_001036.6(RYR3):c.11545A>C (p.Asn3849His)	Epileptic encephalopathy [RCV000557435]\|RYR3-related disorder [RCV003915527]	benign	15	33835049	33835049	Human	3	alternate_id
13475427	CV464954	single nucleotide variant	NM_001036.6(RYR3):c.14110G>A (p.Glu4704Lys)	Epileptic encephalopathy [RCV000548700]\|RYR3-related disorder [RCV003915529]\|not provided [RCV001824818]	benign\|likely benign\|not provided	15	33857882	33857882	Human	3	alternate_id
13605886	CV529061	single nucleotide variant	NM_001036.6(RYR3):c.8956G>A (p.Val2986Ile)	Epileptic encephalopathy [RCV000637268]\|RYR3-related disorder [RCV003953130]	likely benign	15	33772059	33772059	Human	3	alternate_id
13605769	CV529067	single nucleotide variant	NM_001036.6(RYR3):c.9355G>A (p.Glu3119Lys)	Epileptic encephalopathy [RCV000637179]\|RYR3-related disorder [RCV003965338]\|not provided [RCV001532252]	likely benign	15	33785748	33785748	Human	3	alternate_id
13818004	CV568677	single nucleotide variant	NM_001036.6(RYR3):c.8496A>C (p.Gln2832His)	Epileptic encephalopathy [RCV000693419]\|RYR3-related disorder [RCV003420232]	uncertain significance	15	33755161	33755161	Human	3	alternate_id
13812473	CV569301	single nucleotide variant	NM_001036.6(RYR3):c.12463G>A (p.Asp4155Asn)	Epileptic encephalopathy [RCV000703719]\|RYR3-related disorder [RCV003953245]\|not specified [RCV004026638]	likely benign\|uncertain significance	15	33838443	33838443	Human	3	alternate_id
15103007	CV754372	single nucleotide variant	NM_001036.6(RYR3):c.6125A>C (p.Asn2042Thr)	Epileptic encephalopathy [RCV001418879]\|RYR3-related disorder [RCV003902944]	likely benign	15	33696482	33696482	Human	3	alternate_id
127330107	CV1145106	indel	NM_001036.6(RYR3):c.13497+8_13497+9delinsCA	Epileptic encephalopathy [RCV001487868]	likely benign	15	33845070	33845071	Human		name
401916054	CV2817387	deletion	NM_001036.6(RYR3):c.10503-1446_10503-1445del	not provided [RCV003400848]	likely benign	15	33815416	33815417	Human		name
127325195	CV1145111	microsatellite	NM_001036.6(RYR3):c.14142+6AGCCCACCCACTGCGGGGCC[3]	Epileptic encephalopathy [RCV001485727]	likely benign	15	33857919	33857920	Human		name
156125439	CV2283633	single nucleotide variant	NM_001036.6(RYR3):c.3704T>C (p.Met1235Thr)	not specified [RCV004142176]	uncertain significance	15	33644458	33644458	Human		name
156198593	CV2293705	single nucleotide variant	NM_001036.6(RYR3):c.5018T>C (p.Val1673Ala)	not specified [RCV004154995]	uncertain significance	15	33662548	33662548	Human		name
329400590	CV2438528	single nucleotide variant	NM_001036.6(RYR3):c.8056G>A (p.Val2686Met)	not specified [RCV004261717]	uncertain significance	15	33748180	33748180	Human		name
26897232	CV842191	single nucleotide variant	NM_001036.6(RYR3):c.7570T>G (p.Trp2524Gly)	Epileptic encephalopathy [RCV001065376]	uncertain significance	15	33738504	33738504	Human	2	name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message